Deletion of the Immunoglobulin Domain of IL1RAPL1 Results in Nonsyndromic X-Linked Intellectual Disability Associated With Behavioral Problems and Mild Dysmorphism

被引：35

作者：

Franek, Karl J. ^{[1
]}

Butler, Julia ^{[1
]}

Johnson, John ^{[2
]}

Simensen, Richard ^{[1
]}

Friez, Michael J. ^{[1
]}

Bartel, Frank ^{[1
]}

Moss, Tonya ^{[1
]}

DuPont, Barbara ^{[1
]}

Berry, Katherine ^{[2
]}

Bauman, Margaret ^{[3
]}

Skinner, Cindy ^{[1
]}

Stevenson, Roger E. ^{[1
]}

Schwartz, Charles E. ^{[1
]}

机构：

[1] Greenwood Genet Ctr, JC Self Res Inst Human Genet, Ctr Mol Studies, Greenwood, SC 29646 USA

[2] Shodair Childrens Hosp, Dept Med Genet, Helena, MT USA

[3] Harvard Univ, Massachusetts Gen Hosp, Boston, MA 02115 USA

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2011年 / 155A卷 / 05期

关键词：

IL1RAPL1; non-syndromic XLID; deletion; behavior problems; IDIOPATHIC MENTAL-RETARDATION; ACCESSORY PROTEIN-LIKE; ADRENAL HYPOPLASIA; GENE; FAMILY; CHROMOSOME; INACTIVATION; MUTATIONS; INVERSION; AUTISM;

D O I：

10.1002/ajmg.a.33833

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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. (C) 2011 Wiley-Liss, Inc.

引用

页码：1109 / 1114

页数：6

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