Sasha Unger (State University of New York, Buffalo): Publications

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University at Buffalo
Department of Philosophy

Undergraduate

Buffalo, New York, United States of America

Whole-genome analysis reveals that mutations in inositol polyphosphate phosphatase-like 1 cause opsismodysplasia
with J. E. Below, Earl D. L., K. M. Shively, M. J. McMillin, J. D. Smith, E. H. Turner, M. J. Stephan, L. I. Al-Gazali, J. L. Hertecant, D. Chitayat, D. H. Cohn, D. Krakow, J. M. Swanson, E. M. Faustman, J. Shendure, and M. J. da NickersonBamshad

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 cause opsismodysplasia with or without renal phosphate wasting. Evaluation of 12 families with opsismodysplasia revealed that INPPL1 mutations explain ∼60% of cases over…Read more
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 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.