Whole-genome analysis reveals that mutations in inositol polyphosphate phosphatase-like 1 cause opsismodysplasia

Am J Hum Genet. 2013 Jan 10;92(1):137-43. doi: 10.1016/j.ajhg.2012.11.011.

Jennifer E Below ¹, Dawn L Earl, Kathryn M Shively, Margaret J McMillin, Joshua D Smith, Emily H Turner, Mark J Stephan, Lihadh I Al-Gazali, Jozef L Hertecant, David Chitayat, Sheila Unger, Daniel H Cohn, Deborah Krakow, James M Swanson, Elaine M Faustman, Jay Shendure, Deborah A Nickerson, Michael J Bamshad, University of Washington Center for Mendelian Genomics

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Affiliation

1 Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA.

PMID: 23273567 DOI: 10.1016/j.ajhg.2012.11.011

Abstract

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.

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