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在一个比利时家族中,X连锁智力发育迟缓、身材矮小、小头畸形和性腺功能减退定位于Xp22.1-p21.3。

X-linked mental retardation, short stature, microcephaly and hypogonadism maps to Xp22.1-p21.3 in a Belgian family.

作者信息

Van Esch Hilde, Zanni Ginevra, Holvoet Maureen, Borghgraef Martine, Chelly Jamel, Fryns Jean-Pierre, Devriendt Koenraad

机构信息

Centre for Human Genetics, University Hospital Leuven, Herestraat 49, 3000 Leuven, Belgium.

出版信息

Eur J Med Genet. 2005 Apr-Jun;48(2):145-52. doi: 10.1016/j.ejmg.2005.01.016. Epub 2005 Feb 12.

Abstract

X-linked mental retardation (XLMR) is a heterogeneous disorder that can be classified as either non-specific (MRX), when mental retardation is the only feature, or as syndromic mental retardation (MRXS). Genetic defects underlying XLMR are being identified at a rapid pace, often starting from X-chromosomal aberrations and XLMR families with a well-defined linkage interval. Here, we present a new family with a syndromic form of XLMR, including mild mental retardation, short stature, microcephaly and hypogonadism. Two-point linkage analysis with 24 polymorphic markers spanning the entire X chromosome was carried out. We could assign the causative gene to a 6 cM interval in Xp22.1-p21.3, with a maximum LOD score of 2.61 for markers DXS989 and DXS1061 at theta = 0.00. No mutations were found in the presented family for two known MRX genes mapping to this interval, ARX and IL1RAPL-1. These data indicate that the interval Xp22.1-p21.3 contains at least one additional MRXS gene.

摘要

X连锁智力迟钝(XLMR)是一种异质性疾病,当智力迟钝是唯一特征时可归类为非特异性(MRX),或者归类为综合征性智力迟钝(MRXS)。XLMR潜在的遗传缺陷正被迅速识别出来,通常从X染色体畸变以及具有明确连锁区间的XLMR家系入手。在此,我们报告一个患有综合征性XLMR的新家系,包括轻度智力迟钝、身材矮小、小头畸形和性腺功能减退。利用覆盖整个X染色体的24个多态性标记进行了两点连锁分析。我们可以将致病基因定位于Xp22.1 - p21.3的一个6厘摩区间,在θ = 0.00时,标记DXS989和DXS1061的最大对数优势分数为2.61。在所研究的家系中,定位于此区间的两个已知MRX基因ARX和IL1RAPL - 1未发现突变。这些数据表明,Xp22.1 - p21.3区间至少还包含一个MRXS基因。

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