## 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 ret
Nonsyndromic X-linked mental retardation: Mapping of MRX58 to the pericentromeric region
β Scribed by Holinski-Feder, Elke; Chahrockh-Zadeh, Soheyla; Rittinger, Olaf; Jedele, Kerry Baldwin; Gasteiger, Maria; Lenski, Claus; Murken, Jan; Golla, Astrid
- Publisher
- John Wiley and Sons
- Year
- 1999
- Tongue
- English
- Weight
- 27 KB
- Volume
- 86
- Category
- Article
- ISSN
- 0148-7299
- DOI
- 10.1002/(sici)1096-8628(19990910)86:2<102::aid-ajmg2>3.0.co;2-c
No coin nor oath required. For personal study only.
β¦ Synopsis
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 and a maximum multipoint LOD score of 2.09 ( = 0) for the 7 cosegregating markers DXS1243, CybB, MAOB, DXS988, ALAS2, DXS991, and AR. MRX58 thus mapped within a 50-cM interval between Xp11.3 and Xq13.1 and overlapped with 23 other MRX families already described. This pericentromeric clustering of MRX families suggests allelism, with a minimum of 2 X-linked mental retardation (XLMR) genes in this region. Am. J. Med. Genet. 86:102-106, 1999.
π SIMILAR VOLUMES
We report linkage analysis in a new family with nonspecific X-linked mental retardation, using 27 polymorphic markers covering the entire X-chromosome. We could assign the underlying disease gene, denoted MRX65, to the pericentromeric region, with flanking markers DXS573 in Xp11.3 and DXS990 in Xq21
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
As part of an integrated approach to DNAlinkage analysis in X-linked mental retardation (XLMR), 29 members of five families suspected of having XLMR underwent psychometric assessment. Mental retardation was confirmed in all participants. The range of mental retardation varied from mild to profound w
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
Three boys from two families were identified as having a syndrome of X-linked mental retardation (XLMR) with microcephaly and short stature, clinically resembling Renpenning syndrome but with normal size of testicles in affected men. When the effort to map the gene for the above condition was initia