Whole-genome analysis reveals that mutations in inositol polyphosphate phosphatase-like 1 cause opsismodysplasia.
basic_science · Level V
Where this comes from
- Record sourced from PubMed, PMID 23273567.
- Also identified by DOI 10.1016/j.ajhg.2012.11.011 and PMC identifier 3542462.
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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.
Medical subject headings
- Mutation
- Osteochondrodysplasias
- Phosphoric Monoester Hydrolases