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PubMed2003

Magnesium may help patients with recessive hereditary inclusion body myopathy, a pathological review.

Recently, bi-allelic mutations in the gene coding for the bi-functional enzyme UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE/MNK), symbol GNE or GLCNE (MIM: 603824), were associated with the recessively inherited phenotype of IBM2 (MIM: 600737). All patients tested so far have bi-allelic missense mutation(s) of epimerase and/or kinase domains of GNE gene, which clearly explains the recessive inheritance pattern of this phenotype. Single allelic mutations of codons 263-266 of GNE have been implicated as the cause of French type sialuria (MIM: 269921). The dominantly inherited French type sialuria seems to result from defective allosteric feedback inhibitory regulation of GNE/MNK by cytidine monophosphate-N-acetylneuraminic acid (CMP-NANA), resulting in overproduction of cytosolic N-acetylneuraminic acid, and massive urinary excretion of free sialic acid. Because GNE is relatively weakly expressed in skeletal muscle cells, and involvement of other organs are not clinically evident in patients affected with IBM2, it is likely that the missense mutation(s) found in these patients cause a partial reduction of the efficiency of either the epimerase or the kinase activity of this enzyme. Therapeutic dietary modifications are recommended including reduction of ethanol consumption, avoidance of excess selenium, copper, and zinc, and dietary promotion of magnesium (Mg(2+)), which is an essential co-factor for this enzyme.

Animals↗

PubMed2000

Neonatal thrombocytopenia in two of six human platelet alloantigen (HPA) 5a-positive children of an HPA-5a-immunized mother.

We describe a human platelet alloantigen (HPA) 5a-alloimmunized HPA-5b5b mother. The children were obligatory heterozygotes for HPA-5a but despite IgG class maternal anti-HPA-5a antibodies only two (second and fifth) of the six children developed neonatal thrombocytopenia. Throughout the 4-year follow-up the mother had anti-HPA-5a antibodies (confirmed in the 8th Platelet serology workshop of International Society of Blood Transfusion in 1996). Antibodies against glycoproteins (GP) IIbIIIa or IbIX were not detected. Differences in the children's HPA type (HPA-1, -2, -3, -5) did not correlate with thrombocytopenia. We hypothesized that different expression of GPIaIIa recently associated with two silent polymorphisms (C807T and G873A) of GPIa could explain the unpredictable recurrence pattern of neonatal alloimmune thrombocytopenia (NAIT). Both parents were homozygous for the silent polymorphisms (C807 and G873) associated with the low expression of GP Ia. Thus, the inheritance pattern of the silent polymorphisms (C807T and G873A) did not help in predicting the recurrence risk of thrombocytopenia in the offspring. More detailed comprehension of the natural history of NAIT would be necessary to enable directing fetal blood sampling to the cases at the highest risk of thrombocytopenia.

Adult↗

PubMed1984

Chromosome polymorphism involving heterochromatic blocks in Chinese hamster chromosome 9.

A chromosome polymorphism was detected between two early passage euploid Chinese hamster cell strains when a fluorescence shift of the small metacentric No. 9 chromosome was resolved by flow cytometry. The characteristics of the polymorphism were studied using cultures established from ear clippings taken from 16 additional hamsters from our breeding colony. Additional variants of chromosome 9 were detected using flow cytometry, and a subset of these variants were analyzed by G- and C-banding. An increase of fluorescence recorded by flow cytometry correlated with an increase of centromeric heterochromatin. Autosomal normalization of the flow karyotype from 18 different animals indicated three distinct peak positions for chromosome 9. The results indicate that a discrete block of constitutive heterochromatin may be present in one or two extra copies within the small inbred colony of hamsters studied. To determine the inheritance patterns, hamsters with known polymorphic No. 9 chromosomes were bred. The flow karyotypes derived from the offspring of these matings provide strong evidence that chromosomal polymorphisms are inherited in Mendelian fashion.

Animals↗

PubMed1975

Polymporphism of human C-band heterochromatin. II. Family studies with suggestive evidence for somatic crossing over.

An analysis of the inherited pattern of C-band heterochromatin has been made in five pedigrees containing a total of 33 offspring that were available for analysis. The majority of variants were found to be inherited; however, at least seven of the 99 variants were not present in either parent, and an additional seven differed from the parental variant by either a morphological change or the appearance of mosaicism. It is believed that the polymorphism of human constitutive heterochromatin arises from a mismatching of the repetitive DNA sequences contained in these regions with subsequent unequal crossing over. Further, the observed mosaic patterns provide suggestive evidence that such an event occurs in somatic cells as well as during meiosis.

Blood Group Antigens↗

PubMed2004

Ethical implications in genetic counseling and family studies of the epilepsies.

Most of the inherited epilepsies do not follow a Mendelian inheritance pattern but rather are complex disorders. This leads us to reconsider the traditional ethical framework applying to genetics, which is still based largely on the understanding of Mendelian inheritance, to ethically use the genetic tests likely to be forthcoming for the prevention and surveillance of epilepsies. This article is a review of the ethical issues raised by family studies of the epilepsies, in both a clinical and a research context. These issues include the use of genetic tests, the scope of genetic counseling, the upholding of the risk-benefit ratio in pharmacogenetics, as well as those related to the availability of treatments, health professionals' changing responsibilities, and the communication within families. A reasonable approach calls for a case-by-case determination of whether the benefit and harm of genetic testing outweigh benefit and harm of protecting autonomy and nonmaleficence.

Diagnosis↗

PubMed1996

The genetic basis of hereditary blistering disorders.

Inherited blistering disorders have been classified by inheritance pattern, ultrastructural morphology and level of skin cleavage, and immunofluorescence detection of cutaneous antigens. During the past 5 years, investigators have discovered the molecular bases for the major inherited blistering disorders, epidermolytic hyperkeratosis, epidermolysis bullosa simplex, epidermolytic palmoplantar keratoderma, junctional epidermolysis bullosa, and dystrophic forms of epidermolysis bullosa. In addition to providing answers to patients about the underlying mechanisms of these devastating blistering disorders, the discoveries have provided insight into the function of several cutaneous proteins and have led to the ability to diagnose prenatally these lifelong conditions through genetic analysis in affected families.

Child, Preschool↗

PubMed2002

Inheritance of microsatellite loci in the white sturgeon (Acipenser transmontanus).

Nine tetramer motif (GATA)n microsatellite systems were developed for use in the white sturgeon, Acipenser transmontanus. We report inheritance patterns for these nine systems, which range from one possible disomic system to tetrasomy and octosomy, with some systems containing null alleles. Because of the complex modes of inheritance underlying these systems and the highly duplicated nature of the genome, we propose each allele be scored as its own dominant marker, similar to AFLPs or RAPDs. The utility of this method is validated by the observation that individual alleles within a microsatellite system generally fit the expectation for independent transmission and fit the expected transmission frequency for single copy nuclear markers.

Animals↗

PubMed2001

Wolbachia in the Asian rice gall midge, Orseolia oryzae (Wood-Mason): correlation between host mitotypes and infection status.

Using a PCR-based method, we detected Wolbachia in the Asian rice gall midge. Furthermore, results showed that all females across all biotypes are infected with Wolbachia. However, all male flies are not infected and show different infection frequency in different biotypes. We have also identified three mitotypes, in the rice gall midge, based on DraI restriction pattern of a portion of the 12S rRNA gene that was PCR amplified using primers specific to this gene. All the females and infected male flies had type 1 mtDNA while uninfected males showed only type 2 or 3 mtDNA. Inheritance patterns of mtDNA revealed the existence of a correlation between mtDNA type and Wolbachia infection in the Asian rice gall midge. Evidence for paternal inheritance of mtDNA in Wolbachia-free gall midge is also presented.

Animals↗

PubMed2004

Does autosomal dominant pseudoxanthoma elasticum exist?

UNLABELLED: Pseudoxanthoma elasticum (PXE) is a progressive disorder of elastic fibers in skin, eyes, and arterial walls. It is caused by mutations in the ABCC6 gene. Most patients are sporadic cases. The majority of familial cases show autosomal recessive (AR) inheritance, but autosomal dominant (AD) inheritance has also been reported. We reviewed the literature on AD PXE and we studied in detail, both clinically and by DNA studies, a selection of potentially AD pedigrees from our patient population consisting of 59 probands and their family members. Individuals were considered to have definite PXE if they had two of the following three criteria: characteristic ophthalmologic signs, characteristic dermatologic signs, and a positive skin biopsy. In the literature we found only three families with definite PXE in two successive generations and no families with definite PXE in three or more generations. Our own data set comprised three putative AD families. Extensive DNA studies revealed a mutation in only one ABCC6 allele in the patients of these families. Only one of our families showed definite PXE in two generations. Linkage studies revealed that pseudodominance was unlikely in this family. In the other two families AD PXE could not be confirmed after extensive clinical examinations and application of our criteria, since definite PXE was not present in two or more generations. CONCLUSION: the inheritance pattern in PXE usually is AR. Part of the phenotype in family members of PXE patients might be due to expression in heterozygous carriers of an AR disease. AD inheritance in PXE may exist, but is both after careful literature study and in our patient material much rarer than previously thought.

Adolescent↗

PubMed1975

Allozyme genetics in permanent translocation heterozygotes of the Oenothera biennis complex.

Allozyme inheritance and transmission genetics of 11 enzyme systems were determined in the permanent translocation heterozygotes Oenothera biennis, Oe. strigosa, and Oe. parviflora. Electrophoretic variation was examined first among 164 strains of structural heterozygotes. Allelic configurations were then judged from inheritance patterns in reciprocal F1 hybrids between each of 22 ring-forming strains and tester strains of the related bivalent-formers, Oe. hookeri and Oe. grandiflora. Allozymes are inherited as codominant markers, and, as dictated by the genetic system, within a strain individual allelic variants are generally transmitted through only one germ line. Of the 20 loci resolved, only eight are polymorphic in any species, and, within species, generally only two alleles are present at each polymorphic locus. Despite the relatively meager allelic array, each of the 22 strains whose chromosome complexes were characterized is genotypically unique. Generally, within taxa, alpha (egg) and beta (sperm) complexes differ in allele frequency at several polymorphic loci. Such variability is correlated with differences in the phylogenetic origins of complexes and not with differences in segmental arrangement within a group of related complexes.

Alleles↗

PubMed2004

Fecundity genes in sheep.

Since 1980 there has been increasing interest in the identification and utilisation of major genes for prolificacy in sheep. Mutations that increase ovulation rate have been discovered in the BMPR-1B, BMP15 and GDF9 genes, and others are known to exist from the expressed inheritance patterns although the mutations have not yet been located. In the case of BMP15, four different mutations have been discovered but each produces the same phenotype. The modes of inheritance of the different prolificacy genes include autosomal dominant genes with additive effects on ovulation rate (BMPR-1B; Lacaune), autosomal over-dominant genes with infertility in homozygous females (GDF9), X-linked over-dominant genes with infertility in homozygous females (BMP15), and X-linked maternally imprinted genes (FecX2). The size of the effect of one copy of a mutation on ovulation rate ranges from an extra 0.4 ovulations per oestrus for the FecX2 mutation to an extra 1.5 ovulations per oestrus for the BMPR-1B mutation. DNA tests enable some of these mutations to be used in genetic improvement programmes based on marker assisted selection.

Animals↗

PubMed2001

Clinical and pedigree study on familial cases of West syndrome in Japan.

Nationwide survey on familial cases of West syndrome (WS) in first- and second-degree relatives was conducted by mailing a questionnaire to 64 major university hospitals, children's hospitals, and epilepsy centers in Japan, and by review of the Japanese cases in the literatures. Thirty-four familial cases, 20 males and 14 females, were obtained in 15 families including one with five affected members in two generations and another with three affected male siblings including a half brother by a different father (X-linked WS). A mother and the child or children were involved in three families. Nine families had 21 cryptogenic cases and six families had 13 symptomatic cases, and the etiologies were same among the affected members in each family. Familial cases of WS have characteristic clinical features and genetic mechanisms. Age of onset, seizure types, electroencephalographic abnormalities, early seizure outcome, effective treatment, long-term seizure prognosis, and long-term developmental prognosis were concordant among the affected members in each family. Long-term seizure and developmental prognoses were far better than those in WS in general, with seizure-free rate of 82% and normal mental development rate of 44%. Poor prognosis was limited to specific symptomatic cases. Adrenocorticotropic hormone (ACTH) was a treatment of choice, and even in relapse of WS after ACTH therapy, the patients well responded to antiepileptic drugs. Specific inheritance pattern was difficult to imagine in the majority of the present cases, except for one family with X-linked WS and another family with five patients of maternal inheritance. These results are helpful for the treatment choice and prognostication of clinical course for familial cases of WS.

Adrenocorticotropic Hormone↗

PubMed1992

Evidence for paternal imprinting in familial Beckwith-Wiedemann syndrome.

A previously unreported family in which seven members in two generations have Beckwith-Wiedemann syndrome (BWS) is documented. Paternal imprinting of the gene responsible for BWS is involved as the mechanism responsible for the aberrant inheritance pattern in this kindred. A review of published reports showed 27 previously published pedigrees with two or more affected subjects with BWS. Paternal imprinting would explain the non-mendelian inheritance of BWS in all but four kindreds. The latter families are examined in more detail and in only one example is the evidence against imprinting totally unexplained.

Beckwith-Wiedemann Syndrome↗

PubMed1986

Intellectual and cognitive function in adults with myotonic muscular dystrophy.

Intellectual and cognitive function was studied in 43 patients (21 men and 22 women) with myotonic muscular dystrophy (MMD). The inheritance distribution was 18 paternal, 10 maternal, and 15 unknown. All patients received the Wechsler Adult Intelligence Scale-Revised, the Wechsler Memory Scale, the Halstead-Reitan Neuropsychological Test Battery, and the Aphasia Screening Test. Significantly lower scores (p less than 0.05) were found on all intellectual and cognitive impairment tests in both men and women of the maternal inheritance MMD subgroup, compared with the paternal inheritance MMD subgroup and with the normative data. Scores for patients with paternally inherited disease did not differ significantly from normative data for verbal, performance, or full scale intelligence quotients and memory quotients. There were no significant differences in intellectual and cognitive test scores between men and women for the group as a whole, for the maternal inheritance subgroup, or for the paternal inheritance subgroup. It is suggested that inheritance pattern is a necessary variable in studies investigating intellectual and cognitive function in MMD. Although the reason for the association of lower intellectual and cognitive function in MMD of maternal inheritance is not known, the data presented here may be useful for genetic counseling.

Adolescent↗

PubMed2001

Different familial transmission patterns in bipolar I disorder with onset before and after age 25.

Gene identification in common disorders such as Alzheimer disease and breast cancer has greatly profited from the use of age of onset as criterion to delineate subgroups of disease characterized by different inheritance patterns. In bipolar affective disorder, where the majority of linkage studies have produced conflicting results, studies reporting clinical characteristics and familial occurrence of disease have suggested that age of onset might serve as an indicator for identifying more homogeneous subgroups of disease. Our study was the first to examine this hypothesis by the means of segregation analysis. We investigated a sample of 177 bipolar I probands recruited from consecutive admissions and their first- and second-degree relatives (2,407 subjects). Probands were subdivided into an early-onset (n = 107) and a late-onset group (n = 70) using an age of onset of 25 as a cut-off point. This age was chosen because the observed age of onset distribution was bimodal with a cut-off of 25 years. Morbid risks for affective disorder were found significantly higher (P = 0.01) in relatives of probands with an early onset than in probands with late onset of disease. The segregation analysis showed that the disease is transmitted differently in early- and late-onset groups. In the early-onset group, a non-Mendelian major gene with a polygenic component was favored while the data in the late-onset group were compatible with a multifactorial model. This result may have important implications for future molecular studies aiming at the identification of disease-associated genes.

Adult↗

PubMed1995

Developmental regulation of genomic imprinting during gametogenesis.

Successful mammalian development requires both the male and female genomes. This is due in part to genomic imprinting, which results in offspring inheriting only one functional copy of a gene from either the mother or the father. Evidence suggests that this specialization of the parental genomes is established during gametogenesis when the imprint pattern inherited from the parent is switched to reflect the sex of the progeny. We used reverse transcription-PCR to analyze the allele-specific expression of Igf-2, Igf-2r, and H19 in the testes and ovaries of mice derived from an interspecies cross between Mus musculus and Mus spretus. Because of genomic imprinting, Igf-2 is expressed only from the paternal allele and Igf-2r and H19 only from the maternal allele, in most tissues. Although allele-specific expression was maintained in the neonatal testis and ovary, relaxation of imprinting was detected by 7 days after birth in the male and continued during testis development. In the female, relaxation of the Igf-2 and Igf-2r parental imprints was observed in the adult ovary and oocyte. These results (1) indicate that imprinted expression is relaxed during gametogenesis, presumably as a consequence or prerequisite of the imprinting mechanism, and (2) predict a subsequent imprinting event after which the allele-specific expression of Igf-2, Igf-2r, and H19 reflects the parent of origin.

Alleles↗

PubMed1976

Craniosynostosis, midfacial hypoplasia and foot abnormalities: an autosomal dominant phenotype in a large Amish kindred.

An unusual spectrum of craniofacial and foot abnormalities has been detected within a large midwestern Amish kindred. Enlarged great toes and craniofacial abnormalities suggested Pfeiffer acrocephalosynadactyly type V; however, thumb abnormalities were not present. Eighty-eight affected individuals were observed and another 50 were reliably reported to be affected. An autosomal dominant inheritance pattern was observed associated with variable expressivity. All affected individuals had some clinical or radiologic abnormality of the feet. The phenotypic expression was so variable that the entire spectrum of dominantly inherited craniofacial dysotoses-acrocephalosyndactylys (except the typical Apert syndrome) was seen within this kindred.

Child, Preschool↗

PubMed1997

Identification of a complex congenital heart defect susceptibility locus by using DNA pooling and shared segment analysis.

The identification of genetic loci involved in most forms of congenital heart disease has been hampered by the complex inheritance patterns of these disorders. Atrioventricular canal defects (AVCDs) are most commonly associated with Down syndrome, although non-syndromic cases also occur. Non-syndromic AVCDs have been attributed to multifactorial inheritance. However, the occurrence of a few kindreds with multiple affected individuals has suggested that a major genetic locus can account for the disorder in some families. We have used a combination of DNA pooling and shared segment analysis to perform a high density screen of the entire autosomal human genome in an extended kindred. In so doing, we have identified a genetic locus on chromosome 1 shared by all affected individuals. Our data demonstrate the existence of a congenital heart defect susceptibility gene, inherited as an autosomal dominant with incomplete penetrance, involved in AVCD. Furthermore, our data demonstrate the power of using key isolated kindreds in combination with high density genomic screens to identify loci involved in complex disorders such as congenital heart defects.

Chromosome Mapping↗