Journal
AMERICAN JOURNAL OF HUMAN GENETICS
Volume 92, Issue 1, Pages 137-143Publisher
CELL PRESS
DOI: 10.1016/j.ajhg.2012.11.011
Keywords
-
Categories
Funding
- National Institutes of Health/National Human Genome Research Institute [1U54HG006493, 1RC2HG005608]
- National Institute of Child Health and Development [HD22657, HHSN27500503415C, HHSN267200700023C]
- National Institute of Dental and Craniofacial Research [DE019567]
- Life Sciences Discovery Fund [2065508, 0905001]
- Washington Research Foundation
Ask authors/readers for more resources
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 similar to 60% of cases overall, including both of the families in our cohort with more than one affected child and 50% of the simplex cases.
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available