Genetic heterogeneity of syndromic X-linked recessive microphthalmia-anophthalmia: Is Lenz microphthalmia a single disorder?
Genetic heterogeneity of syndromic X-linked recessive microphthalmia-anophthalmia: Is Lenz microphthalmia a single disorder?
复制标题
DOI：
10.1002/ajmg.10484
复制
发表时间：
2002-07-15
期刊：
影响因子：
--
通讯作者：
Biesecker, LG
中科院分区：
文献类型：
--
作者：
Ng, D;Hadley, DW;Biesecker, LG
Nonsyndromic congenital microphthalmia or anophthalmia is a heterogeneous malformation with autosomal dominant, autosomal recessive, and X-linked modes of inheritance. Lenz microphthalmia syndrome comprises microphthalmia with mental retardation, malformed ears, skeletal anomalies, and is inherited in an X-linked recessive pattern. Prior studies have shown linkage of both isolated (or nonsyndromic) anophthalmos (ANOP1, [MINI 3015901) and Lenz syndrome [MIM 3098001 to Xq27-q28. Nonsyndromic colobomatous microphthalmia [MIM 3003451 has been linked to Xp11.4-Xq11.1. We describe a five-generation African-American family with microphthalmia or anophthalmia, mental retardation, and urogenital anomalies, in an X-linked recessive inheritance pattern, consistent with Lenz syndrome. Initial linkage analysis with microsatellite markers excluded the region in Xq27-q28 previously reported as a candidate region for ANOP1 [MIM 301590]. An X-chromosome scan revealed linkage to a 10-cM region between markers DXS228 and DXS992 in Xp11.4-p21.2. Multipoint analysis gave a maximum LOD score of 2.46 at marker DXS993. These data show that X-linked recessive syndromic microphthalmia exhibits genetic heterogeneity. In addition, it suggests that Lenz microphthalmia syndrome, previously thought to be a single disorder, may represent an amalgam of two distinct disorders. Published (C) 2002 Wiley-Liss, Inc.
