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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Whole-genome analysis reveals that mutations in inositol polyphosphate phosphatase-like 1 cause opsismodysplasia
American Journal of Human Genetics, Volume 92, No. 1, Year 2013
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Description
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 ∼60% of cases overall, including both of the families in our cohort with more than one affected child and 50% of the simplex cases. © 2013 The American Society of Human Genetics.
Authors & Co-Authors
Below, Jennifer E.
United States, Seattle
University of Washington
Earl, Dawn L.
United States, Seattle
Seattle Children's Hospital
United States, Seattle
University of Washington
Shively, Kathryn M.
United States, Seattle
University of Washington
McMillin, Margaret J.
United States, Seattle
University of Washington
Smith, Joshua D.
United States, Seattle
University of Washington
Turner, Emily H.
United States, Seattle
University of Washington
Stephan, Mark J.
United States, Tacoma
Madigan Army Medical Center
Al-Gazali, Lihadh I.
United Arab Emirates, Al Ain
United Arab Emirates University
Hertecant, Jozef L.
United Arab Emirates, Al Ain
United Arab Emirates University
Chitayat, David A.
Canada, Toronto
University of Toronto
Unger, Sheila L.
Switzerland, Lausanne
Centre Hospitalier Universitaire Vaudois
Cohn, Daniel H.
United States, Los Angeles
University of California, Los Angeles
Krakow, Deborah E.
United States, Los Angeles
University of California, Los Angeles
Swanson, James M.
United States, Irvine
University of California, Irvine
Faustman, Elaine M.
United States, Seattle
University of Washington
Shendure, Jay A.
United States, Seattle
University of Washington
Nickerson, Deborah A.
United States, Seattle
University of Washington
Bamshad, Michael J.
United States, Seattle
University of Washington
United States, Seattle
Seattle Children's Hospital
Statistics
Citations: 51
Authors: 18
Affiliations: 8
Identifiers
Doi:
10.1016/j.ajhg.2012.11.011
ISSN:
00029297
e-ISSN:
15376605
Research Areas
Genetics And Genomics
Maternal And Child Health
Study Design
Cohort Study