Whole-genome analysis reveals that mutations in inositol polyphosphate phosphatase-like 1 cause opsismodysplasia

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

doi:10.1016/j.ajhg.2012.11.011

Whole-genome analysis reveals that mutations in inositol polyphosphate phosphatase-like 1 cause opsismodysplasia

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

Research output: Contribution to journal › Article › peer-review

52 Citations (Scopus)

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.

Original language	English
Pages (from-to)	137-143
Number of pages	7
Journal	American Journal of Human Genetics
Volume	92
Issue number	1
DOIs	https://doi.org/10.1016/j.ajhg.2012.11.011
Publication status	Published - Jan 10 2013

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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10.1016/j.ajhg.2012.11.011

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Below, J. E., Earl, D. L., Shively, K. M., McMillin, M. J., Smith, J. D., Turner, E. H., Stephan, M. J., Al-Gazali, L. I., Hertecant, J. L., Chitayat, D., Unger, S., Cohn, D. H., Krakow, D., Swanson, J. M., Faustman, E. M., Shendure, J., Nickerson, D. A., & Bamshad, M. J. (2013). Whole-genome analysis reveals that mutations in inositol polyphosphate phosphatase-like 1 cause opsismodysplasia. American Journal of Human Genetics, 92(1), 137-143. https://doi.org/10.1016/j.ajhg.2012.11.011

Below, JE, Earl, DL, Shively, KM, McMillin, MJ, Smith, JD, Turner, EH, Stephan, MJ, Al-Gazali, LI, Hertecant, JL, Chitayat, D, Unger, S, Cohn, DH, Krakow, D, Swanson, JM, Faustman, EM, Shendure, J, Nickerson, DA & Bamshad, MJ 2013, 'Whole-genome analysis reveals that mutations in inositol polyphosphate phosphatase-like 1 cause opsismodysplasia', American Journal of Human Genetics, vol. 92, no. 1, pp. 137-143. https://doi.org/10.1016/j.ajhg.2012.11.011

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title = "Whole-genome analysis reveals that mutations in inositol polyphosphate phosphatase-like 1 cause opsismodysplasia",

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.",

author = "Below, \{Jennifer E.\} and Earl, \{Dawn L.\} and Shively, \{Kathryn M.\} and McMillin, \{Margaret J.\} and Smith, \{Joshua D.\} and Turner, \{Emily H.\} and Stephan, \{Mark J.\} and Al-Gazali, \{Lihadh I.\} and Hertecant, \{Jozef L.\} and David Chitayat and Sheila Unger and Cohn, \{Daniel H.\} and Deborah Krakow and Swanson, \{James M.\} and Faustman, \{Elaine M.\} and Jay Shendure and Nickerson, \{Deborah A.\} and Bamshad, \{Michael J.\}",

note = "Funding Information: We thank the families for their participation and support. We thank Thomas Markello, Michael Bober, Arti Pandya, and J. Edward Spence for referral of subjects and Kathryn Millar, Ants Toi, and Sarah Keating for their assistance. Our work was supported in part by grants from the National Institutes of Health/National Human Genome Research Institute (1U54HG006493 and 1RC2HG005608 to M.J.B., D.A.N., and J.S.), the National Institute of Child Health and Development (HD22657 to D.H.C. and D.K., HHSN27500503415C to J.M.S., and HHSN267200700023C to E.M.F.), the National Institute of Dental and Craniofacial Research (DE019567 to D.H.C. and D.K.), the Life Sciences Discovery Fund (2065508 and 0905001), and the Washington Research Foundation. ",

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AU - Smith, Joshua D.

AU - Turner, Emily H.

AU - Stephan, Mark J.

AU - Al-Gazali, Lihadh I.

AU - Hertecant, Jozef L.

AU - Chitayat, David

AU - Unger, Sheila

AU - Cohn, Daniel H.

AU - Krakow, Deborah

AU - Swanson, James M.

AU - Faustman, Elaine M.

AU - Shendure, Jay

AU - Nickerson, Deborah A.

AU - Bamshad, Michael J.

N1 - Funding Information: We thank the families for their participation and support. We thank Thomas Markello, Michael Bober, Arti Pandya, and J. Edward Spence for referral of subjects and Kathryn Millar, Ants Toi, and Sarah Keating for their assistance. Our work was supported in part by grants from the National Institutes of Health/National Human Genome Research Institute (1U54HG006493 and 1RC2HG005608 to M.J.B., D.A.N., and J.S.), the National Institute of Child Health and Development (HD22657 to D.H.C. and D.K., HHSN27500503415C to J.M.S., and HHSN267200700023C to E.M.F.), the National Institute of Dental and Craniofacial Research (DE019567 to D.H.C. and D.K.), the Life Sciences Discovery Fund (2065508 and 0905001), and the Washington Research Foundation.

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N2 - 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.

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Whole-genome analysis reveals that mutations in inositol polyphosphate phosphatase-like 1 cause opsismodysplasia

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