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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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