Center for Molecular Studies, J.C. Self Research Institute of Human Genetics, Greenwood Genetic Center, South Carolina, USA.
Am J Med Genet A. 2011 May;155A(5):1109-14. doi: 10.1002/ajmg.a.33833. Epub 2011 Apr 11.
X-Linked intellectual disability accounts for a significant fraction of males with cognitive impairment. Many of these males present with a non-syndromic phenotype and presently mutations in 17 X-linked genes are associated with these patients. Mutations in IL1RAPL1 have been found in multiple families with non-syndromic X-linked intellectual disability. All of the published mutations predict loss of function of the protein. We have identified an additional two families with deletions of a portion of the gene that give rise to cognitive impairment, as well as some behavioral problems and mild dysmorphism. Our clinical findings better delineate the phenotypic spectrum associated with IL1RAPL1 mutations.
X 连锁智力障碍占男性认知障碍的很大一部分。这些男性中有许多表现出非综合征表型，目前已有 17 个 X 连锁基因的突变与这些患者相关。IL1RAPL1 基因突变已在多个非综合征性 X 连锁智力障碍的家族中被发现。所有已发表的突变都预测该蛋白的功能丧失。我们还发现了另外两个家族，其部分基因缺失导致认知障碍，以及一些行为问题和轻度发育不良。我们的临床发现更好地描绘了与 IL1RAPL1 突变相关的表型谱。
