Details

Autor(en) / Beteiligte

• 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.

Titel

Whole-Genome Analysis Reveals that Mutations in Inositol Polyphosphate Phosphatase-like 1 Cause Opsismodysplasia

Ist Teil von

• American journal of human genetics, 2013-01, Vol.92 (1), p.137-143

Ort / Verlag

United States: Elsevier Inc

Erscheinungsjahr

2013

Quelle

ScienceDirect

Beschreibungen/Notizen

• 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.