No evidence of genetic heterogeneity in Brazilian facioscapulohumeral muscular dystrophy familes (FSHD) with 4q markers

The gene responsible for facioscapulohuineral muscular dystrophy (FSHD), an autosomal dominant neuromuscular condition, has been mapped to chromosome 4. Until recently, the two closest available markers were D4S139 and D4S163 but a new marker (p13E-11) which recognizes de novo rearrangements in isol...

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Bibliographic Details
Published in:Human molecular genetics 1993-05, Vol.2 (5), p.557-562
Main Authors: Passos-Bueno, M.Rita, Wijmenga, Cisca, Takata, Reinaldo E., Marie, Sueli K.N., Vainzof, Mariz, Pavanello, Rita C., Hewitt, Jane E., Bakker, Egbert, Carvalho, Alzira, Akiyama, Jane, Frants, Rune R., Zatz, Mayana
Format: Article
Language:English
Subjects:
Biological and medical sciences
Diseases of striated muscles. Neuromuscular diseases
Medical sciences
Neurology
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Summary:The gene responsible for facioscapulohuineral muscular dystrophy (FSHD), an autosomal dominant neuromuscular condition, has been mapped to chromosome 4. Until recently, the two closest available markers were D4S139 and D4S163 but a new marker (p13E-11) which recognizes de novo rearrangements in isolated cases of FSHD characterized by shorter EcoRI fragments has been now identified. Linkage analysis In FSHD families with pl3E4l shows that usually a smaller fragment segregates with the disease gene among the affected individuals from each genealogy. In the present paper, we report the results from linkage analysis with the marker loci D4S163 and D4S139 in 6 FSHID families and with pl3E-11 in these and In 6 other additional Brazilian families (total of 12). The results from such analysis do not suggest genetic heterogeneity for FSHD in our population. In 11 out of the 12 families studied with pl3E-11, a shorter specific EcoRI band was found to segregate In all affected patients from each genealogy. In one family, the normal Individuals had a smaller EcoRI fragment than the affected ones. The size of the EcoRI fragments detected with pl3E-11 varied from 13.5 to 29 kb but was constant within each genealogy. Our results suggest that the use of the marker pl3E-11 for predlinical and prenatal diagnosis should be done only in families in which it is possible to identify the fragments segregating among the affected individuals.
ISSN:0964-6906
1460-2083
DOI:10.1093/hmg/2.5.557