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

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

AI Assistant Blog Pricing

Home ZAIA Blog

Open Access

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

Author(s) -

Jennifer E. Below,

Dawn Earl,

Kathryn M. Shively,

Margaret J. McMillin,

Joshua D. Smith,

Emily H. Turner,

Mark J. Stephan,

L.I. Al-Gazali,

Jozef Hertecant,

David Chitayat,

Sheila Unger,

Daniel H. Cohn,

Deborah Krakow,

James M. Swanson,

Elaine M. Faustman,

Jay Shendure,

Deborah A. Nickerson,

Michael J. Bamshad

Publication year - 2012

Publication title -

the american journal of human genetics

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 6.661

H-Index - 302

eISSN - 1537-6605

pISSN - 0002-9297

DOI - 10.1016/j.ajhg.2012.11.011

Subject(s) - wasting , polyphosphate , short stature , genetics , biology , phosphate , endocrinology , biochemistry

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.

The content you want is available to Zendy users.

Already have an account? Click here to sign in.

Having issues? You can contact us here

Accelerating Research