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" Whole-genome analysis reveals that mutations in inositol polyphosphate phosphatase-like 1 cause opsismodysplasia. "
Below, Jennifer E; Earl, Dawn L; Shively, Kathryn M; McMillin, Margaret J; Smith, Joshua D; Turner, Emily H; Stephan, Mark J; Al-Gazali, Lihadh I; Hertecant, Jozef L; Chitayat, David; Unger, Sheila; Cohn, Daniel H; Krakow, Deborah; Swanson, James M; Faustman, Elaine M; Shendure, Jay; et al.
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AL
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| Record Number
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908383
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LA0m17r3zz
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| Title & Author
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Whole-genome analysis reveals that mutations in inositol polyphosphate phosphatase-like 1 cause opsismodysplasia. [Article]\ Below, Jennifer E; Earl, Dawn L; Shively, Kathryn M; McMillin, Margaret J; Smith, Joshua D; Turner, Emily H; Stephan, Mark J; Al-Gazali, Lihadh I; Hertecant, Jozef L; Chitayat, David; Unger, Sheila; Cohn, Daniel H; Krakow, Deborah; Swanson, James M; Faustman, Elaine M; Shendure, Jay; et al.
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2013
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UC Irvine
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| Abstract
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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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