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

  • Author(s): 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;
  • Nickerson, Deborah A;
  • Bamshad, Michael J;
  • University of Washington Center for Mendelian Genomics
  • et al.
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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