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

  • Author(s): Below, JE
  • Earl, DL
  • Shively, KM
  • McMillin, MJ
  • Smith, JD
  • Turner, EH
  • Stephan, MJ
  • Al-Gazali, LI
  • Hertecant, JL
  • Chitayat, D
  • Unger, S
  • Cohn, DH
  • Krakow, D
  • Swanson, JM
  • Faustman, EM
  • Shendure, J
  • Nickerson, DA
  • Bamshad, MJ
  • 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. © 2013 The American Society of Human Genetics.

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