Whole-Genome Analysis Reveals that Mutations in Inositol Polyphosphate Phosphatase-like 1 Cause Opsismodysplasia

被引：41

作者：

Below, Jennifer E. ^{[1
]}

Earl, Dawn L. ^{[2
,3
]}

Shively, Kathryn M. ^{[3
]}

McMillin, Margaret J. ^{[3
]}

Smith, Joshua D. ^{[1
]}

Turner, Emily H. ^{[1
]}

Stephan, Mark J. ^{[4
]}

Al-Gazali, Lihadh I. ^{[5
]}

Hertecant, Jozef L. ^{[5
]}

Chitayat, David ^{[6
]}

Unger, Sheila ^{[7
]}

Cohn, Daniel H. ^{[8
,9
]}

Krakow, Deborah ^{[9
,10
]}

Swanson, James M. ^{[11
]}

Faustman, Elaine M. ^{[12
]}

Shendure, Jay ^{[1
]}

Nickerson, Deborah A. ^{[1
]}

Bamshad, Michael J. ^{[1
,2
,3
]}

机构：

[1] Univ Washington, Dept Genome Sci, Seattle, WA 98195 USA

[2] Seattle Childrens Hosp, Div Med Genet, Seattle, WA 98105 USA

[3] Univ Washington, Dept Pediat, Seattle, WA 98195 USA

[4] Madigan Army Med Ctr, Dept Pediat, Tacoma, WA 98431 USA

[5] United Arab Emirates Univ, Dept Pediat, Al Ain, U Arab Emirates

[6] Univ Toronto, Mt Sinai Hosp, Prenatal Diag & Med Genet Program, Dept Obstet & Gynecol, Toronto, ON M5G 1Z5, Canada

[7] Univ Lausanne, Ctr Hos Univ Vaudois, Dept Genet, CH-1011 Lausanne, Switzerland

[8] Univ Calif Los Angeles, Dept Mol Cell & Dev Biol, Los Angeles, CA 90095 USA

[9] Univ Calif Los Angeles, Dept Orthopaed Surg, Los Angeles, CA 90095 USA

[10] Univ Calif Los Angeles, Dept Human Genet, Los Angeles, CA 90095 USA

[11] Univ Calif Irvine, Dept Pediat, Irvine, CA 92697 USA

[12] Univ Washington, Dept Environm & Occupat Hlth Sci, Seattle, WA 98195 USA

来源：

AMERICAN JOURNAL OF HUMAN GENETICS | 2013年 / 92卷 / 01期

基金：

美国国家卫生研究院;

关键词：

AUTOSOMAL RECESSIVE INHERITANCE; SHIP2;

D O I：

10.1016/j.ajhg.2012.11.011

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Opsismodysplasia is a rare, autosomal-recessive skeletal dysplasia characterized by short stature, characteristic facial features, and in some cases severe renal phosphate wasting. We used linkage analysis and whole-genome sequencing of a consanguineous trio to discover that mutations in inositol polyphosphate phosphatase-like 1 (INPPL1) cause opsismodysplasia with or without renal phosphate wasting. Evaluation of 12 families with opsismodysplasia revealed that INPPL1 mutations explain similar to 60% of cases overall, including both of the families in our cohort with more than one affected child and 50% of the simplex cases.

引用

页码：137 / 143

页数：7

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