Two families with nonspecific X-linked mental retardation (XLMR) are presented. In the first family, MRX49, 5 male patients in 2 generations showed mild to moderate mental retardation. Two-point linkage analysis with 28 polymorphic markers, dispersed over the X-chromosome, yielded a maximal LOD scor
Regional localization of a nonspecific X-linked mental retardation gene (MRX59) to Xp21.2-p22.2
β Scribed by Carpenter, Nancy J.; Brown, W. Ted; Qu, Yong; Keenan, Kathy L.
- Publisher
- John Wiley and Sons
- Year
- 1999
- Tongue
- English
- Weight
- 54 KB
- Volume
- 85
- Category
- Article
- ISSN
- 0148-7299
- DOI
- 10.1002/(sici)1096-8628(19990730)85:3<266::aid-ajmg16>3.0.co;2-p
No coin nor oath required. For personal study only.
β¦ Synopsis
Linkage analysis was performed on a fourgeneration family with nonspecific mental retardation (MRX59
). The five affected males, ranging in age from 2 years to 52 years, have a normal facial appearance and mild to severe mental impairment. Four obligate carriers are physically normal and not retarded. A maximum LOD score of 2.41 at = 0.00 was observed with the microsatellite markers, DMD45 in Xp21.2, DXS989 in Xp22.1, and DXS207 in Xp22.2. Recombinations were detected within the dystrophin gene (DMD) in one of the affected males and between DXS207 and DXS987 in Xp22.2 in one of the carriers. These recombinants define the proximal and distal boundaries of a candidate gene region. Genetic localization of this familial condition made prenatal diagnosis informative for one of the obligate carriers.
π SIMILAR VOLUMES
We studied a family with 11 males having X-linked mental retardation (XLMR) using microsatellite markers. Aside from the mental retardation, the affected males do not appear to differ from their unaffected brothers or uncles. The gene for this XLMR condition has been linked to DXS451 in Xp22.13 with
Nonspecific X-linked mental retardation (MRX) is a heterogeneous condition in which mental retardation (MR) appears to be the only consistent manifestation. A large genetic interval of assignment obtained on individual families by linkage analysis, genetic, heterogeneity, and phenotypic variability
We read with interest the article, published recently in this journal by Ronce et al. [1999] describing three generations of a French family segregating with a syndromal form of X-linked mental retardation (XLMR) characterized by hypotonia, intractable seizures, and severe mental deficiency. We wish
We describe a large family with nonspecific X-linked mental retardation (MRX 47). An X-linked recessive transmission is suggested by the inheritance from the mothers in two generations of a moderate to severe form of mental retardation in six males, without any specific clinical findings. Two point
An Austrian family with nonsyndromic Xlinked mental retardation (MRX) is reported in which the obligatory carrier females are normal, and 5 affected males have mild to moderate mental retardation. Linkage analysis indicated an X pericentromeric localization, with flanking markers DXS989 and DXS1111