SEVERE NONSPECIFIC X-LINKED MENTAL-RETARDATION CAUSED BY A PROXIMALLY XP LOCATED GENE - INTRAGENIC HETEROGENEITY OR A NEW FORM of X-LINKED MENTAL-RETARDATION

SEVERE NONSPECIFIC X-LINKED MENTAL-RETARDATION CAUSED BY A PROXIMALLY XP LOCATED GENE - INTRAGENIC HETEROGENEITY OR A NEW FORM of X-LINKED MENTAL-RETARDATION

Autor Passosbueno, M. R. Google Scholar
Byth, B. C. Google Scholar
Rosenberg, S. Google Scholar
Takata, R. I. Google Scholar
Bakker, E. Google Scholar
Beggs, A. H. Google Scholar
Pavanello, R. C. Google Scholar
Vainzof, M. Google Scholar
Davies, K. E. Google Scholar
Zatz, M. Google Scholar
Instituição UNIV OXFORD
Universidade Federal de São Paulo (UNIFESP)
LEIDEN UNIV
HARVARD UNIV
Resumo X-linked mental retardation (XLMR) can be subdivided into syndromic and nonsyndromic or nonspecific. Patients with nonsyndromal XLMR show no characteristic manifestations, biochemical defects, or distinct fragile sites. Nevertheless, nonspecific XLMR seems to be heterogeneous. To determine the number and location of the genes responsible for XLMR, linkage studies in large pedigrees have to be performed. Here we report the data of linkage analysis in a large Brazilian family with 7 patients affected by a severe form of XLMR, with no other associated malformations. All the obligate carriers are normal. A close linkage without recombination (lod scores 1.95 and 3.25) was found between the disease locus and polymorphic DNA loci DXS255 (Xp11.22), DXS14 (Xp11.21). These results suggest that the gene responsible for the disease in this family maps in the Xp11-cent of the X chromosome. Positive lod scores in this region have also been reported for other XLMR genealogies, but with a much milder phenotype. the possibility of intragenic or locus heterogeneity is discussed.
Palavra-chave LINKAGE ANALYSIS
GENETIC HETEROGENEITY
MENTAL RETARDATION
Idioma Inglês
Data de publicação 1993-04-15
Publicado em American Journal of Medical Genetics. New York: Wiley-liss, v. 46, n. 2, p. 172-175, 1993.
ISSN 0148-7299 (Sherpa/Romeo, fator de impacto)
Publicador Wiley-Blackwell
Extensão 172-175
Fonte http://dx.doi.org/10.1002/ajmg.1320460214
Direito de acesso Acesso restrito
Tipo Artigo
Web of Science WOS:A1993KV58600013
Endereço permanente http://repositorio.unifesp.br/handle/11600/25319

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