Congenital cataracts facial dysmorphism neuropathy (CCFDN) syndrome: a novel developmental disorder in Gypsies maps to 18qter.
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We have identified a novel developmental disorder with complex phenotypic characteristics involving primarily the nervous system, which appears to be common in a specific Gypsy group in Bulgaria. We propose to refer to the syndrome as congenital cataracts facial dysmorphism neuropathy (CCFDN). We have assigned the disease locus to the telomeric region of chromosome 18q. Linkage disequilibrium and highly conserved haplotypes suggest genetic homogeneity and founder effect. CCFDN co-localises with an EST which shows high homology to a conserved Drosophila gene involved in the regulation of nervous system development in vertebrates. (+info)
A founder mutation in the GK1 gene is responsible for galactokinase deficiency in Roma (Gypsies).
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Galactokinase deficiency is an inborn error in the first step of galactose metabolism. Its major clinical manifestation is the development of cataracts in the first weeks of life. It has also been suggested that carriers of the deficiency are predisposed to presenile cataracts developing at age 20-50 years. Newborn screening data suggest that the gene frequency is very low worldwide but is higher among the Roma in Europe. Since the cloning of the galactokinase gene (GK1) in 1995, only two disease-causing mutations, both confined to single families, have been identified. Here we present the results of a study of six affected Romani families from Bulgaria, where index patients with galactokinase deficiency have been detected by the mass screening. Genetic linkage mapping placed the disease locus on 17q, and haplotype analysis revealed a small conserved region of homozygosity. Using radiation hybrid mapping, we have shown that GK1 is located in this region. The founder Romani mutation identified in this study is a single nucleotide substitution in GK1 resulting in the replacement of the conserved proline residue at amino acid position 28 with threonine (P28T). The P28T carrier rate in this endogamous population is approximately 5%, suggesting that the mutation may be an important cause of early childhood blindness in countries with a sizeable Roma minority. (+info)
Heavy transfusions and presence of an anti-protein 4.2 antibody in 4. 2(-) hereditary spherocytosis (949delG).
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BACKGROUND AND OBJECTIVE: A patient with hereditary spherocytosis (HS) was found not to have red cell membrane protein 4.2. This rare form of HS, or 4.2 (-) HS, stems from mutations within the ELB42 or the EPB3 genes. The patient had long suffered from a gastric ulcer and impaired liver function. He had had several dramatic episodes of gastrointestinal tract bleeding and had received numerous transfusions. An antibody against a high frequency, undefined antigen was found, creating a transfusional deadlock. We elucidated the responsible mutation and searched for an anti-protein 4.2 antibody. DESIGN AND METHODS: Red cell membranes were analyzed by SDS-PAGE and by Western blotting. Nucleotide sequencing was performed after reverse transcriptase-polymerase chain reaction (RT-PCR) and nested PCR. RESULTS: The not previously described mutation was a single base deletion: 949delG (CGCAECC, exon 7, codon 317) in the homozygous state. It was called protein 4.2 Nancy. The deletion placed a non-sense codon shortly downstream so that no viable polypeptide could be synthesized. The patient carried a strong antibody against protein 4.2 as shown by Western blotting. INTERPRETATION AND CONCLUSIONS: The manifestations resulting from the mutation described were compared with the picture of HS stemming from other ELB42 gene mutations. We discuss the mechanism through which the anti-protein 4.2 antibody developed. There was no way to establish or to rule out whether the antibody participated in the transfusional deadlock found in our patient. (+info)
The health of the Roma people: a review of the published literature.
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BACKGROUND: The Roma people originated in northern India and have been known in Europe for nearly a thousand years. For much of that time they have been the subjects of discrimination and oppression, culminating in the extermination of half a million Roma in the Nazi death camps. While it is widely believed that the health of Roma people is often poorer than the majority population, these inequalities remain largely unresearched. METHODS: Published literature on the health of the Roma people was identified using Medline. Opinion pieces were excluded, as were papers relating to anthropometry and to genetic markers. The resultant papers were analysed by country of study and by disease type or care group. RESULTS: Some 70% of papers identified related to just three countries; Spain and the Czech and Slovak Republics. Much literature concentrates upon communicable disease or reproductive health. The limited evidence suggests increased morbidity from non-communicable disease, but there is little published on this topic. Evidence on health care, though fragmentary, suggests poorer access to health services and uptake of preventative care. DISCUSSION: Published research on the health needs of the Roma population is sparse. The topics that have received attention suggest a focus on concepts of contagion or social Darwinism, indicating a greater concern with the health needs of the majority populations with which they live. There is a need for both further research into the health of Roma people; with particular emphasis on non-communicable disease; and also for interventions that improve Roma health. Such research must, however, be handled with sensitivity, recognising the social and political context of the society concerned. (+info)
Patterns of inter- and intra-group genetic diversity in the Vlax Roma as revealed by Y chromosome and mitochondrial DNA lineages.
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Previous genetic studies, supported by linguistic and historical data, suggest that the European Roma, comprising a large number of socially divergent endogamous groups, may be a complex conglomerate of founder populations. The boundaries and characteristics of such founder populations and their relationship to the currently existing social stratification of the Roma have not been investigated. This study is an attempt to address the issues of common vs independent origins and the history of population fissioning in three Romani groups that are well defined and strictly endogamous relative to each other. According to linguistic classifications, these groups belong to the Vlax Roma, who account for a large proportion of the European Romani population. The analysis of mtDNA sequence variation has shown that a large proportion of maternal lineages are common to the three groups. The study of a set of Y chromosome markers of different mutability has revealed that over 70% of males belong to a single lineage that appears unique to the Roma and presents with closely related microsatellite haplotypes and MSY1 codes. The study unambiguously points to the common origins of the three Vlax groups and the recent nature of the population fissions, and provides preliminary evidence of limited genetic diversity in this young founder population. (+info)
Familial CD8 deficiency due to a mutation in the CD8 alpha gene.
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CD8 glycoproteins play an important role in both the maturation and function of MHC class I-restricted T lymphocytes. A 25-year-old man, from a consanguineous family, with recurrent bacterial infections and total absence of CD8(+) cells, was studied. Ab deficiencies and ZAP-70 and TAP defects were ruled out. A missense mutation (gly90-->ser) in both alleles of the immunoglobulin domain of the CD8 alpha gene was shown to correlate with the absence of CD8 expression found in the patient and two sisters. Conversely, high percentages of CD4(-)CD8(-)TCR alpha beta(+) T cells were found in the three siblings. A novel autosomal recessive immunologic defect characterized by absence of CD8(+) cells is described. These findings may help to further understanding of the role of CD8 molecules in human immune response. (+info)
Health status of Gypsy Travellers.
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BACKGROUND: Although previous studies suggest that Gypsy Travellers have poorer health status and excess mortality compared with the general population, there is no epidemiological evidence using validated measures in this nomadic ethnic group. The aim of this study was to compare the health status of traditional Gypsy Travellers with norms from the UK population, and with a concurrent comparison group using the Euroqol health status measure (EQ-5D). METHODS: Eighty-seven adult Gypsy Travellers were matched for age and sex with English or Irish residents, registered with an urban general practice in an area of high social deprivation. Both samples completed the EQ-5D questionnaire by interview. A comparison was also made with normative data from the UK general population. RESULTS: Travellers had poorer health status than their settled counterparts on two of the five dimensions (mobility and activity) but not on the overall summary score. Travellers reported significantly poorer health than the matched comparison group on the EQ-5D visual analogue scale. Both the Travellers and the comparison group had much poorer health status on the EQ-5D index than the UK population norms, even when compared with the lowest socioeconomic group. CONCLUSIONS: Health status of Gypsy Travellers was significantly poorer than in the lowest socio-economic UK population group, but was not so markedly different from a concurrent, matched, socially deprived resident group. Gypsy Travellers did have poorer health status than matched comparators in relation to mobility, activity and perception of overall health. Quantitative assessment of health status in the Traveller community is feasible. (+info)
Health, attitude to care and pattern of attendance among gypsy women-a general practice perspective.
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BACKGROUND: There is a lack of knowledge about health and attitude to care among gypsies. OBJECTIVES: The aim of this study was to explore the reasons for and patterns of attendance among gypsy women in primary health care and to shed light on health problems of gypsies. METHODS: Four gypsy women, frequently attending a primary health care centre, were interviewed in depth. Data were analysed according to grounded theory. Additional facts were received from record files. RESULTS AND CONCLUSIONS: The gypsy women seldom approached the health centre alone but paid a visit together with relatives or friends. The women usually presented the same type of symptoms, often pain, headache and depression, and obtained the same type of diagnosis and treatment. The symptoms had an acute character and the women wanted immediate access. A collective pattern, a hierarchical order and a strict rule system characterized the gypsy life and coloured the relation to health and illness. Young women were especially vulnerable and could easily end up outside the collective and display symptoms. (+info)