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Biomedical subjects

D Amor

Publications and source records attributed to D Amor.

8 recordsLinked to original sources
PubMed2004

Growth, behavior, and clinical findings in 27 patients with Kabuki (Niikawa-Kuroki) syndrome.

This study was undertaken to document the phenotype of Kabuki (Niikawa-Kuroki) syndrome in patients from Australia and New Zealand, with particular emphasis on growth patterns, behavior, and relationship between head circumference and intellectual level. Data on 27 children and adults with Kabuki (Niikawa-Kuroki) syndrome from Australia and New Zealand were collected by questionnaire and clinical assessment. The patients ranged in age from 7 months to 36 years with a mean age of 7 years and 2 months. The mean age at diagnosis was 3(5/6) years, but in most cases, the facial phenotype was evident from infancy. The minimum birth prevalence was calculated at 1 in 86,000. Three of our patients died. Parents reported a behavior phenotype characterized by an excellent long-term memory and avoidance of eye contact. No correlation was found between head circumference and severity of intellectual disability. Eight of 14 patients over the age of 5 years were overweight or obese. Six of these eight patients had failure to thrive in infancy. One patient developed insulin-dependent diabetes mellitus in adolescence. Some individuals with Kabuki (Niikawa-Kuroki) syndrome show a characteristic growth profile with failure to thrive in infancy progressing to obesity or overweight in middle childhood or adolescence. A behavior phenotype was noted which requires further investigation. Head size is not a predictor of degree of intellectual disability.

Abnormalities, Multiple↗
PubMed2003

Two further cases of Ohdo syndrome delineate the phenotypic variability of the condition.

Ohdo syndrome (MIM 249620) is a multiple malformation syndrome characterized by blepharophimosis, ptosis, dental hypoplasia, hearing impairment and intellectual disability. A wide range of dysmorphic features and congenital abnormalities have been described in cases reported as Ohdo and Ohdo-like syndromes. We report a further two cases of Ohdo syndrome, one with mild features and the other more severely affected, illustrating the phenotypic variability of the condition. A review of the literature highlights the severe phenotype associated with distinctive facial features, as seen in Case 2 in this report All cases with the severe phenotype have been sporadic. Subtelomeric FISH studies of all chromosome arms on the two cases showed no abnormality. We propose clinical criteria for the diagnosis of Ohdo syndrome and delineate features of the severe phenotype.

Blepharophimosis↗
PubMed2001

Parental mosaicism of JAG1 mutations in families with Alagille syndrome.

The Alagille syndrome (AGS), a congenital disorder affecting liver, heart, skeleton and eye in association with a typical face, is an autosomal dominant disease with nearly complete penetrance and variable expression. AGS is caused by mutations in the developmentally important JAG1 gene. In our mutation screening, where 61 mutations in JAG1 were detected, we identified five cases where mosaicism is present. Our results point to a significant frequency of mosaicism for JAG1 mutations in AGS of more than 8.2%. Because mosaicism may be associated with a very mild phenotype, the appropriate diagnosis of AGS and consequently the determination of the recurrence risk can be complicated.

Alagille Syndrome↗
PubMed2001

Familial cancers. An overview.

BACKGROUND: Some individuals carry inherited genetic mutations that place them at a substantially increased risk of developing certain types of cancer. The genetic basis for many familial cancer syndromes is now understood. OBJECTIVE: To outline how to recognise familial cancer syndromes on the basis of family history, and to describe the management of such individuals at familial cancer clinics. DISCUSSION: Familial cancer syndromes are presumed to account for 5-10% of all cancers. They are typically characterised by early age of onset of cancer and the occurrence of cancer in multiple members of the same family. Recognition of such families allows preventive strategies to be instituted with the aim of reducing the morbidity and mortality of familial cancer syndromes. In some families genetic testing can be performed, with appropriate counselling, to further clarify the risk of cancer and to better target preventive strategies.

Humans↗
PubMed2001

Gene therapy. Principles and potential applications.

BACKGROUND: Gene therapy represents an exciting new possibility for the treatment of rare genetic disorders and common multifactorial diseases. OBJECTIVE: To provide an overview of the principals of gene therapy and to outline the current progress of human gene therapy trials. DISCUSSION: Gene therapy is a novel approach to treat, cure or prevent disease by changing the expression of a person's genes. Typically gene therapy involves using a vector such as a virus to deliver a therapeutic gene to the appropriate target cells. Gene therapy is still in its infancy and is not yet available outside clinical trials. Gene therapy was originally envisaged as a treatment of monogenic disorders, but the majority of gene therapy trials now involve the treatment of cancer, infectious diseases and vascular disease. Human gene therapy raises several important ethical issues, in particular the potential use of genetic therapies for genetic enhancement and the potential impact of germline gene therapy on future generations.

Ethics, Medical↗
PubMed2000

Analysis of CDKN1C in Beckwith Wiedemann syndrome.

In this study we have examined 32 patients with Beckwith Wiedemann Syndrome (BWS) for mutations affecting the CDKN1C gene, including seven cases of familial BWS. Mutations were not detected in the coding region of the CDKN1C gene in any individual with BWS. However in two patients, two G/A base substitutions at adjacent positions in the 5'UTR were detected. These substitutions were also found in normal controls. Expression of CDKN1C in somatic tissues was examined in 18 of the 32 cases using semi-quantitative RT-PCR. CDKN1C expression was significantly reduced in the peripheral blood of three cases compared with controls. These results suggest that, although coding region mutations in the CDKN1C gene are rare in BWS, mutations disrupting CDKN1C expression may be found. Three of five informative patients exhibited biallelic CDKN1C expression in lymphocytes, cord blood, and kidney tissue, respectively. Biallelic expression was not associated with overall CDKN1C levels significantly different to those in controls. Patients who expressed CDKN1C biallelically, or who were low CDKN1C expressors, maintained monoallelic methylation in the Differentially Methylated Region 2 (DMR2) of the IGF2 locus. One patient expressing CDKN1C biallelically, maintained imprinted gene expression at the IGF2 locus. These results suggest that biallelic CDKN1C expression does not significantly perturb the overall levels of CDKN1C expression in somatic tissue. They also confirm other studies showing that the mechanisms associated with regulating CDKN1C expression and imprinting are separate from those regulating IGF2 imprinting.

Alleles↗