Biomedical subjects

Kun Xia

Publications and source records attributed to Kun Xia.

At least 37 records · Page 2Linked to original sources

PubMed2006

[Identification and clone of human Alzheimer's disease related gene nicastrin promoter].

OBJECTIVE: To identify the promoter of human nicastrin (NCT) gene, a major component of gamma-secretase which is closely related with pathogenesis of Alzheimer's disease. METHODS: Promoter of human Alzheimer's disease related gene, nicastrin, a 1768 bp fragment was firstly isolated from human genomic DNA by PCR. This fragment's 3 flanking end was 4 bp upstream to the start codon ATG (+1) of the gene. This fragment was used as template, a series of deleted fragments were amplified and constructed to the pGL3-Enhancer plasmid with the artificial designed linkers. The relative activity of their promoter in Hela cells was studied by dual-luciferase assay. RESULTS: The 420 bp fragment showed the strongest activity, and the 237 bp fragment was the minimal fragment in length with activity. CONCLUSION: The promoter of NCT is located at -432/-133 region upstream the translational start codon, while its basal promoter is between -359/-90 that drives the transcription of reporter gene in Hela cells.

Alzheimer Disease↗

PubMed2006

[A mutation 1633-26(C-->A) in EXT1 gene causes multiple exostoses].

OBJECTIVE: To study the gene mutation in a patient with multiple exostoses, identify the disease-causing gene mutation. METHODS: Polymerase chain reaction and DNA sequencing were used to screen the EXT1 or EXT2 gene mutation, while mismatch primer amplification and restriction endonuclease digestion were performed to confirm the mutation. RESULTS: By DNA sequencing, a mutation in the seventh intron was detected and located at 26 bp of 3' splice site upstream in EXT1 gene, which was unreported before. Mismatch primer amplification and restriction fragment length polymorphism analysis suggested that this mutation was not detected in the normal control. CONCLUSION: The mutation 1633-26(C-->A) may be the disease-causing mutation in this patient with multiple exostoses.

DNA Mutational Analysis↗

PubMed2006

[Cloning to rule out 10 candidate genes located in chromosome 12q24 for Charcot-Marie-Tooth disease type 2L].

OBJECTIVE: To clone the disease-causing genes possibly existing in 6.8 cM distance between microsatellite markers D12S1720 and D12S1611 in chromosome 12q24 for Charcot-Marie-Tooth disease type 2L (CMT2L). METHODS: Ten positional and functional candidate genes were chosen among all known genes in this locus region by bioinformatics inqury. Mutation detection was performed by sequencing the exons and intron-exon junctions of the candidate genes. RESULTS: Eleven sequence variations, that included 5 heterozygous and 6 homozygous variations, were detected in the exons and flanking areas of the 10 candidate genes. All the variations showed no co-segregation with disease phenotype. CONCLUSION: Ten candidate genes(TAOK3, RAB35, RPLP0, PXN, RNF10, RHOF, VPS33A, RSN, DENR, RNP24) were ruled out as the disease-causing gene for CMT2L. Ten single nucleotide polymorphisms (SNP) were reported for the first time.

Base Sequence↗

PubMed2006

[Clinical and mutational analysis of KCNQ3 gene in a Chinese family with benign familial neonatal convulsions].

OBJECTIVE: To study the clinical and genetic characteristics of a Chinese family with benign familial convulsions (BFNC). METHODS: The clinical data of this family was analyzed. The blood samples were collected from 13 members of this family. By four microsatellite markers which are located in the gene loci of both K+ channel KCNQ2 and KCNQ3, the linkage analysis was performed in the family. With DNA direct sequencing and restriction endonuclease cutting analysis, the mutation analysis of KCNQ3 gene was made for the proband, other 12 family members and 76 unrelated normal individuals. RESULTS: There were 7 patients with BFNC observed in the three generation of family. The BFNC seizures of all patients disappeared during one month and no recurrence of seizures was found. The linkage analysis suggested the disease gene linked to KCNQ3 gene locus in the family. The mutation 988(C to T) of KCNQ3 gene was found in the proband by DNA-direct sequencing. Cosegregation of this mutation with BFNC was confirmed by restriction endonuclease cutting analysis. CONCLUSION: Chinese patients with BFNC can be caused by KCNQ3 gene mutation.

Base Sequence↗

PubMed2006

[The prenatal diagnosis and early intervention of nonsyndromic hearing loss of connexin26 gene].

OBJECTIVE: To detect the mutations of gene connexin26 in the pedigrees of nonsyndromic hearing loss, and to make prenatal diagnosis and carry out early intervention to the pedigrees with mutations of gene con nexin26. METHOD: The connexin26 gene of probands in 100 nonsyndromic hearing loss pedigrees was inspected by polymerase chain reaction, single strand conformational polymorphism and direct sequencing to detect the gene mutations. To the pregnant women in pedigrees with confirmed nosogenetic mutations of connexin26 gene, the prenatal diagnosis to the fetus by cordocentesis was made and the early intervention was carried out. RESULT: The homozygous deletion C at position 233-235 of connexin26 cDNA was proved to be a nosogenetic mutation, and G79A, G109A, A341G, G442A, G506A and T608C were proved to be polymorphisms. In the prenatal diagnosis for the second pregnancy of a woman in a pedigree with the homozygous deletion C at position 233-235 of connexin26 cDNA, the same mutation in the fetus' connexin26 gene was found and she was advised to end the pregnancy. CONCLUSION: The homozygous deletion C at position 233-235 of connexin26 cDNA will induce autosomal recessive nonsyndromic hereditary hearing loss and the heterogeneous mutation will not cause hearing loss. The prenatal diagnosis and early intervention can prevent the birth of deaf children. This is the first time in our country to make prenatal diagnosis and proceed early intervention to the fetus of hereditary hearing loss.

Connexin 26↗

PubMed2006

[Functional interaction of the C-terminal of Nogo protein with connexin 26 and the expression of Nogo's mRNA in the murine inner ear].

OBJECTIVE: To screen and identify the proteins that interact with connexin 26 (CX26) and to analyze the expressions of these proteins in cochlea so as to explore the proteins that relate to the trafficking, assembly, localizing and gap junction functions of CX26. METHODS: The whole coding region of GJB2 (CX26) gene was amplified from normal human genomic DNA by polymerase chain reaction (PCR) and then directionally subcloned into the vector pGBKT7 plasmid of the Match Maker Ga14 Two-Hybrid System 3 as a target to screen the interactive proteins of CX26 from the human fetal brain cDNA library by the yeast two hybrid technique. The false positive clones were discarded from the preys by repeated yeast two hybrid method between CX26 and everyone of the preys respectively. The DNAs of the insert of the identified positive clone were sequenced and BLAST analyzed against the GenBank. Lastly, the mRNA of the gene encoding the identified protein was analyzed in the murine inner ear by reverse transcription-polymerase chain reaction (RT-PCR). RESULTS: The insert of one positive clone contained 867 bp with the former 525 bp being coding region. The DNA sequence and the open reading frame of the insert were identical to the 525 bp before the stop codes (including the stop codes) and the 238 bp after the stop codes of RTN4 gene which encoded Nogo protein. And the 174 amino acid residues encoded by the insert were those of the C-terminal of Nogo protein: Nogo-A, Nogo-B and Nogo-C. RTN4 mRNA expressed in the murine inner ear was confirmed by RT-PCR method. CONCLUSION: The C-terminal of Nogo protein interacts with CX26. Nogo protein expresses in the inner ear and may take part in the trafficking of CX26 or CX26 gap junction function.

Animals↗

PubMed2006

[Study on aggregate formation mechanism of HSPB8 gene mutation resulting in CMT2L].

OBJECTIVE: To study the possible mechanism of the intracellular aggregate formation of small heat shock protein HSPB8 (HSPB8)(K141N) mutation resulting in axonal Charcot-Marie-Tooth disease type 2L(CMT2L). METHODS: The cell models which transiently expressed pEGFPN1-HSPB8 and pEGFPN1-(K141N)HSPB8 were established. The immunofluorescent co-location study of EGFP-(K141N)HSPB8 and HSPB1, EGFP-(K141N)HSPB8 and neurofilament light chain (NEFL) was carried out in the SHSY5Y cell models. The aggregate formation of EGFP-(K141N)HSPB8 in cell models was investigated and the possible mechanism of cellular aggregate formation was analyzed by t test and analysis of variance between group(ANOVA). RESULTS: EGFP-(K141N)HSPB8 formed large aggregate which predominantly located around the nucleus in cell models. EGFP-(K141N)HSPB8 co-localized perfectly with HSPB1 and NEFL in the SHSY5Y cell models. The aggregate formation was different in different cell types, there were fewer aggregates formed in an sHSPs deficient milieu than in HEK293T cells. CONCLUSION: (K141N)HSPB8 formed aggregates predominantly locate around the nucleus in cells. (K141N)HSPB8 co-localizes perfectly with HSPB1 and NEFL. The aggregate formation may be due to (K141N)HSPB8 conformational change leading to self aggregation and its abnormal interaction with other sHSPs such as HSPB1.

Cell Line↗

PubMed2005

Mutation analysis of the ATM gene in two Chinese patients with ataxia telangiectasia.

Ataxia telangiectasia (A-T) is an autosomal recessive disorder characterized by cerebellar ataxia, telangiectasia, immunodeficiency, elevated alpha-fetoprotein level, chromosomal instability, predisposition to cancer, and radiation sensitivity. Although a lot of mutations in the ATM gene have been described, there is still no report about ATM mutations in Chinese population. Using a molecular approach, we screened for ATM mutations in two patients from two unrelated Chinese families. 100 normal controls were analyzed to exclude possibility of polymorphism. Two novel mutations in the ATM gene were identified. The first one is a novel, homozygous, 1346G>C (Gly449Ala) missense mutation. The second one is a compound heterozygous mutation, which consists of a novel, 610G>T (Gly204Stop) nonsense mutation, combined with a previously reported, 6679C>T (Arg2227Cys) missense mutation. The transversions 1346G>C (Gly449Ala) and 610G>T (Gly204Stop) are not localized either in the conserved PI-3 kinase domain or in the other domains of the ATM protein. The phenotypic features were characterized by progressive cerebellar ataxia, ocular telangiectasia, elevated alpha-fetoprotein level, immunodeficiency (agammaglo-bulinemia and T-cell defect), and rearrangements of chromosomes 7 and 14; brain MRI showed cerebellar atrophy, brain SPECT showed cerebellar regional cerebral blood flow (rCBF) hypoperfusion. To our knowledge, this is the first report of ATM mutations in Mainland China, in which the transversions 1346G>C (Gly449Ala) and 610G>T (Gly204Stop) are two novel, disease-causing mutations.

Adolescent↗

PubMed2005

Combined radiation and suicide gene therapy for Nasopharyngeal Carcinoma: in vitro and in vivo models.

Nasopharyngeal carcinoma (NPC) cells are highly radiosensitive. Historically, the main modality for NPC has been radiotherapy. Now, to explore a novel and more effective approach to NPC therapy, a combined strategy of suicide gene and radiation was developed. The yeast CDglyTK (yCDglyTK) gene controlled by a synthetic CMV-enhanced Egr-1 promoter (CE) was constructed whose expression in NPC CNE-2 cells was detected by Western Blot. The cytotoxicity of the combined radio-gene therapy was assayed by MTT. The conversion rate of 5-FC to 5-FU in vitro and the bio-distribution of 5-FU in vivo were determined by HPLC. An animal study in which yCDglyTK-expressing CNE-2 tumors were treated with 5-FC and radiation was also conducted. The results reveal that yCDglyTK is expressed in CNE-2 cells, the CEyCDglyTK/5-FC system has a potent anti-tumor action in NPC, and the radio-sensitization of Egr-1 promoter plays a key role in the killing of CNE-2 cells and in the conversion of 5-FC to 5-FU. Moreover, the treated tumors regressed significantly, and a significant difference of tumor volumes was observed between the CEyCDglyTK+5-FC+radiation group and the other four groups (P<0.05). The results also showed that suicide gene therapy and radiation have a synergic anti-tumor effect on NPC, and the combined strategy of radio-gene therapy is of great potential as a substitute for the traditional method, radiation alone, in NPC therapies.

Journal Article↗

PubMed2005

Progressive polymorphic congenital cataract caused by a CRYBB2 mutation in a Chinese family.

PURPOSE: To report and identify the genetic defect that causes progressive polymorphic congenital cataracts affecting a large five generation Chinese family. METHODS: Family history and phenotypic data were recorded, and the phenotypes were documented by slit lamp photography. Genetic linkage analysis was performed on the known genetic loci for autosomal dominant congenital cataract (ADCC) with 41 short tandem repeat polymorphic markers. Mutations were screened by DNA sequencing and restriction fragment length analysis (RFLP). RESULTS: A significant two point LOD score was generated at marker D22S420, D22S539 and D22S315 for 22q11.2. The highest observed LOD score was 6.26 (theta=0.00) with marker D22S315. Mutation screening of the CRYBB2 gene in this family revealed an C-->T transition at position 475 (Q155X) of the cDNA sequence, creating a novel SpeI restriction site that cosegregated with affected members of the pedigree, but was not present in unaffected members or any of the 100 unrelated individuals tested. CONCLUSIONS: Our finding expands the spectrum of cataract phenotypes caused by the Q155X mutation of CRYBB2, confirms the phenotypic heterogeneity of this mutation and suggests the mechanism that influences the congenital cataract formation in different ethnic backgrounds.

Adult↗

PubMed2005

Spinocerebellar ataxia type 6 in Mainland China: molecular and clinical features in four families.

The hereditary spinocerebellar ataxias (SCAs) are a clinically and genetically heterogeneous group of neurodegenerative disorders. The genes causing 11 of these diseases have been identified. To date, there is no report of SCA type 6 (SCA6) in Mainland Chinese. Using a molecular approach, we investigated SCA6 as well as other SCA subtype in 120 Mainland Chinese families with dominantly inherited ataxias and in 60 Mainland Chinese patients with sporadic ataxias. Clinical and molecular features of SCA6 were further characterized in 13 patients from 4 families. We found that SCA3/MJD was the most common type of autosomal dominant SCA in Mainland Chinese, accounting for 83 patients from 59 families (49.2%), followed by SCA2 (8 [6.7%]), SCA1 (7 [5.8%]), SCA6 (4 [3.3%]), SCA7 (1 [0.8%]), SCA8 (0%), SCA10 (0%), SCA12 (1 [0.8%]), SCA14 (0%), SCA17 (0%) and DRPLA (0%). The genes responsible for 40 (33.3%) of dominantly inherited SCA families remain to be determined. Among the 60 patients with sporadic ataxias in the present series, 3 (5.0%) were found to harbor SCA3 mutations, whereas none were found to harbor SCA6 mutations. In the 4 families with SCA6, we found significant anticipation in the absence of genetic instability on transmission. This is the first report of geographic cluster of families with SCA6 subtype in Mainland China.

Ataxin-3↗

PubMed2005

[The characteristics of gene mutations in Chinese patients with Charcot-Marie-Tooth disease].

OBJECTIVE: To study the characteristics of gene mutations in Chinese patients with Charcot-Marie-Tooth disease (CMT). METHODS: Real-time quantitative PCR, PCR-SSCP, and/or direct sequencing were used to analyze the mutation of the pathogenic genes PMP22, MPZ, CX32, EGR2, GDAP1, NEFL, HSP22 and HSP27 in 113 probands of CMT families, 45 of which had family history, from different provinces in China. The whole family members of the subjects with abnormal electrophoretic bands and 50 normal controls underwent the same examination. RESULTS: Thirty-six cases of PMP22 duplication, 7 cases of CX32 mutation, 1 case of HSP22 mutation, 1 case of HSP27 mutation, 1 case of MPZ mutation, and 1 case of GDAP1 mutation were found in the 113 CMT probands. No point mutation was found in PMP22, EGR2 and NEFL genes. CONCLUSION: Among the Chinese CMT patients 31.9% are caused by PMP22 duplication, 6.2% by CX32, and 0.9% by HSP22, HSP27, MPZ and GDAP1. Point mutations of PMP22, EGR2 and NEFL are rare.

Adolescent↗

PubMed2005

SNP Cutter: a comprehensive tool for SNP PCR-RFLP assay design.

The Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) is a relatively simple and inexpensive method for genotyping single nucleotide polymorphisms (SNPs). It requires minimal investment in instrumentation. Here, we describe a web application, 'SNP Cutter,' which designs PCR-RFLP assays on a batch of SNPs from the human genome. NCBI dbSNP rs IDs or formatted SNPs are submitted into the SNP Cutter which then uses restriction enzymes from a pre-selected list to perform enzyme selection. The program is capable of designing primers for either natural PCR-RFLP or mismatch PCR-RFLP, depending on the SNP sequence data. SNP Cutter generates the information needed to evaluate and perform genotyping experiments, including a PCR primers list, sizes of original amplicons and different allelic fragment after enzyme digestion. Some output data is tab-delimited, therefore suitable for database archiving. The SNP Cut-ter is available at http://bioinfo.bsd.uchicago.edu/SNP_cutter.htm.

DNA Primers↗

PubMed2005

[Mutation analysis of PINK1 gene in Chinese patients with autosomal recessive early-onset parkinsonism type 6].

OBJECTIVE: To detect PINK1 gene mutations and study the clinical features in Chinese patients with autosomal recessive early-onset parkinsonism (AREP) type 6. METHODS: PINK1 gene mutations were detected using polymerase chain reaction (PCR), DNA sequence analysis, and restriction enzyme digestion analysis in 11 index probands of 11 AREP families. RESULTS: Two novel point mutations in PINK1 gene, C938T in exon four, leading to substitution of a threonine for methionine codon at amino acid 313 (T313M) and C1474T in exon seven introducing a stop codon at amino acid 492 (R492Stop), were found in two families. In another family, a synonymous mutation (Y454Y) was detected. The clinical features in patients with PINK1 mutations included early onset, slow disease progression, hyperreflexia, diurnal fluctuations with sleep benefit, and good response to levodopa. However, dyskinesias related to levodopa treatment were absent. CONCLUSION: PINK1 gene mutations are a common cause of AREP. PARK6 pedigrees have been firstly identified in Chinese Mainland. Clinical heterogeneity exists in PARK6.

Adolescent↗

PubMed2005

Frequency analysis of autosomal dominant spinocerebellar ataxias in mainland Chinese patients and clinical and molecular characterization of spinocerebellar ataxia type 6.

BACKGROUND: Dominantly inherited spinocerebellar ataxia (SCA) is a clinically and genetically heterogeneous group of neurodegenerative disorders. This study was to further assess the frequency of SCA1 (spinocerebellar ataxia type 1), SCA2, SCA3/MJD (spinocerebellar ataxia type 3/Machado-Joseph disease), SCA6, SCA7, SCA8, SCA10, SCA12, SCA14, SCA17 and DRPLA (dentatorubro-pallidoluysian atrophy) in mainland Chinese, and to specifically characterize mainland Chinese patients with SCA6 in terms of clinical and molecular features. METHODS: Using a molecular approach, we investigated SCA in 120 mainland Chinese families with dominantly inherited ataxias and in 60 mainland Chinese patients with sporadic ataxias. Clinical and molecular features of SCA6 were further characterized in 13 patients from 4 families. RESULTS: SCA3/MJD was the most common type of autosomal dominant SCA in mainland Chinese, accounting for 83 patients from 59 families (49.2%), followed by SCA2 [8 (6.7%)], SCA1 [7 (5.8%)], SCA6 [4 (3.3%)], SCA7 [1 (0.8%)], SCA8 (0%), SCA10 (0%), SCA12 (0%), SCA14 (0%), SCA17 (0%) and DRPLA (0%). The genes responsible for 41 (34.2%) of dominantly inherited SCA families remain to be determined. Among the 60 patients with sporadic ataxias in the present series, 3 (5.0%) was found to harbor SCA3 mutations while none was found to harbor SCA6 mutations. In the 4 families with SCA6, significant anticipation was found in the absence of genetic instability on transmission. CONCLUSION: A geographic cluster of families with SCA6 subtype was initially identified in a mainland Chinese population.

Adult↗

PubMed2005

[Research on clinical characteristics and ATM gene mutations in Chinese patients with ataxia-telangiectasia].

OBJECTIVE: To investigate the clinical manifestation and mutation characteristics of ATM gene in Chinese patients with ataxia-telangiectasia (AT). METHODS: Sequence variants of the entire coding exons of ATM gene were tested using polymerase chain reaction (PCR), reverse transcription-polymerase chain reaction (RT-PCR), polyacrylamide gel electrophoresis (PAGE) and DNA direct sequencing in two Chinese patients clinically diagnosed as AT. RESULTS: The clinical characteristics of two AT patients were progressive cerebellar ataxia with ages at onset of childhood, ocular-cutaneous telangiectasia and recurrent pulmonary infection due to immuno-deficiency; the serum alpha fetoprotein (AFP) levels were higher than normal, the serum immunoglobin IgA and IgG levels were lower than normal; brain MRI showed cerebellar atrophy, brain SPECT showed cerebellar regional cerebral blood flow (rCBF) hypoperfusion to a certain degree. Totally three nucleotide changes were identified. A missense mutation of G1346C in exon 11, which was a homozygotic mutation, was identified in one patient; a nonsense mutation of G610T in exon 6 combined with a missense mutation of C6679T in exon 47, which was a compound heterozygotic mutation, were identified in the other patient. They were co-segregated with the disease and were localized within the functional domain of ATM gene. CONCLUSION: We have made gene diagnoses for two Chinese AT patients, in which three novel ATM gene mutations were identified.

Ataxia Telangiectasia↗

PubMed2005

Mutation screening of Cx32 in Han Chinese patients with Charcot-Marie-Tooth disease.

OBJECTIVE: To investigate the Cx32 mutation features and the clinical manifestations of Chinese patients with Charcot-Marie-Tooth disease(CMT). METHODS: Twenty-four of 65 unrelated CMT patients were selected for Cx32 mutation screening after the exclusion of the CMT1A 1.5 Mb duplication and male-to-male transmission. The motor and sensory nerve conduction studies were performed in all probands and most of their affected family members to establish the clinical CMT1 ,CMT2 or CMT intermediate diagnosis. The presence of mutations in the coding region of Cx32 was detected by single-strand conformation polymorphism analysis combined with direct sequencing. RESULTS: We found 7 different point mutations in the coding region of Cx32 in a total of 7 families. All the patients were mildly to moderately affected with a clinical CMT1 or CMT intermediate diagnosis. The mutation Arg15Gln was inherited with X-linked recessive trait in family 1 involved in our study. The Arg75Trp mutation was detected in a family with X-linked dominant CMT and autosomal recessive nonsydromic hearing loss. The clinical phenotype of the Thr188Ala mutation was firstly reported. CONCLUSION: Seven different Cx32 point mutations were detected and the percentage of Chinese CMT families with Cx32 mutation is about 10% in our study. The inheritance model of CMT secondary to Cx32 mutation could be X-linked dominant, X-linked recessive or sporadic. Male patients are usually more severely affected than females with slower nerve conduction velocities. Cx32 mutation screening should be firstly performed in those CMT families without male-to-male transmission and CMT1A duplication.

Charcot-Marie-Tooth Disease↗

PubMed2005

Mutation analysis of the small heat shock protein 27 gene in chinese patients with Charcot-Marie-Tooth disease.

BACKGROUND: Charcot-Marie-Tooth (CMT) disease, the most common hereditary peripheral neuropathy, is highly clinically and genetically heterogeneous, and mutations in at least 18 genes have been identified. Recently, mutations in small heat shock protein 27 (Hsp27) were reported to cause CMT disease type 2F and distal hereditary motor neuropathy. OBJECTIVE: To investigate the frequency and phenotypic features of an Hsp27 mutation in Chinese patients with CMT disease. DESIGN: DNA samples from 114 unrelated patients with CMT disease were screened for mutations in Hsp27 by polymerase chain reaction and direct sequencing. A cosegregated study was performed using the MbiI restriction endonuclease, and 50 healthy control subjects were analyzed. Haplotype analysis was performed using 5 short tandem repeat markers to analyze whether the families with the same mutation probably had a common ancestor. RESULTS: One missense mutation, C379T, was detected in 4 autosomal dominant families with CMT disease type 2, and haplotype analysis indicated that the 4 families probably had a common founder. The frequency of the Hsp27 mutation is 0.9% (1/111) in Chinese patients with CMT disease in our study, and the phenotypes were characterized by later onset (age, 35-60 years) and mild sensory impairments. Electrophysiological findings showed moderately to severely slowed nerve conduction velocities in lower limb nerves but normal or mildly reduced velocities in upper limb nerves. CONCLUSIONS: To our knowledge, this is the first report of an Hsp27 mutation in the People's Republic of China. The C379T mutation in Hsp27 also causes CMT disease type 2, except for distal hereditary motor neuropathy, and the phenotypes are distinct from the family with CMT disease type 2F described previously. A mutation of Hsp27 may be uncommon in Chinese patients with CMT disease.

Adult↗