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

Jennifer E. Below, Dawn L. Earl, Kathryn M. Shively, Margaret J. McMillin, Joshua D. Smith, Emily H. Turner, Mark J. Stephan, Lihadh I. Al-Gazali, Jozef L. Hertecant, David Chitayat, Sheila Unger, Daniel H. Cohn, Deborah Krakow, James M. Swanson, Elaine M. Faustman, Jay Shendure, Deborah A. Nickerson, Michael J. Bamshad

Research output: Contribution to journalArticlepeer-review

42 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)137-143
Number of pages7
JournalAmerican Journal of Human Genetics
Volume92
Issue number1
DOIs
Publication statusPublished - Jan 10 2013

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Fingerprint

Dive into the research topics of 'Whole-genome analysis reveals that mutations in inositol polyphosphate phosphatase-like 1 cause opsismodysplasia'. Together they form a unique fingerprint.

Cite this