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

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.

SUBMITTER: Below JE

PROVIDER: S-EPMC3542462 | biostudies-literature | 2013 Jan

REPOSITORIES: biostudies-literature

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

Below Jennifer E JE Earl Dawn L DL Shively Kathryn M KM McMillin Margaret J MJ Smith Joshua D JD Turner Emily H EH Stephan Mark J MJ Al-Gazali Lihadh I LI Hertecant Jozef L JL Chitayat David D Unger Sheila S Cohn Daniel H DH Krakow Deborah D Swanson James M JM Faustman Elaine M EM Shendure Jay J Nickerson Deborah A DA Bamshad Michael J MJ

American journal of human genetics 20121227 1

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 c ...[more]

PMID: 23273567

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