Literature DB >> 23273567

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

Jennifer E Below1, 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.   

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.
Copyright © 2013 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

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Year:  2012        PMID： 23273567      PMCID： PMC3542462          DOI： 10.1016/j.ajhg.2012.11.011

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


  11 in total

1.  Five familial cases of opsismodysplasia substantiate the hypothesis of autosomal recessive inheritance.

Authors:  K Tyler; N Sarioglu; J Kunze
Journal:  Am J Med Genet       Date:  1999-03-05

2.  Clinical, radiological, and chondro-osseous findings in opsismodysplasia: survey of a series of 12 unreported cases.

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Journal:  J Med Genet       Date:  2003-03       Impact factor: 6.318

3.  A unique chondrodysplasia secondary to a defect in chondroosseous transformation.

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Journal:  Birth Defects Orig Artic Ser       Date:  1977

4.  Absence of the lipid phosphatase SHIP2 confers resistance to dietary obesity.

Authors:  Mark W Sleeman; Katherine E Wortley; Ka-Man V Lai; Lori C Gowen; Jennifer Kintner; William O Kline; Karen Garcia; Trevor N Stitt; George D Yancopoulos; Stanley J Wiegand; David J Glass
Journal:  Nat Med       Date:  2005-01-16       Impact factor: 53.440

Review 5.  Opsismodysplasia: another case and literature review.

Authors:  H G Santos; J M Saraiva
Journal:  Clin Dysmorphol       Date:  1995-07       Impact factor: 0.816

Review 6.  Additional case of opsismodysplasia supporting autosomal recessive inheritance.

Authors:  F A Beemer; K S Kozlowski
Journal:  Am J Med Genet       Date:  1994-02-01

7.  The lipid phosphatase SHIP2 controls insulin sensitivity.

Authors:  S Clément; U Krause; F Desmedt; J F Tanti; J Behrends; X Pesesse; T Sasaki; J Penninger; M Doherty; W Malaisse; J E Dumont; Y Le Marchand-Brustel; C Erneux; L Hue; S Schurmans
Journal:  Nature       Date:  2001-01-04       Impact factor: 49.962

8.  Developmental defects and rescue from glucose intolerance of a catalytically-inactive novel Ship2 mutant mouse.

Authors:  Eléonore Dubois; Monique Jacoby; Marianne Blockmans; Eileen Pernot; Serge N Schiffmann; Lazaros C Foukas; Jean-Claude Henquin; Bart Vanhaesebroeck; Christophe Erneux; Stéphane Schurmans
Journal:  Cell Signal       Date:  2012-06-30       Impact factor: 4.315

9.  Opsismodysplasia: a new type of chondrodysplasia with predominant involvement of the bones of the hand and the vertebrae.

Authors:  P Maroteaux; V Stanescu; R Stanescu; B Le Marec; C Moraine; H Lejarraga
Journal:  Am J Med Genet       Date:  1984-09

10.  Fast and accurate short read alignment with Burrows-Wheeler transform.

Authors:  Heng Li; Richard Durbin
Journal:  Bioinformatics       Date:  2009-05-18       Impact factor: 6.937
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  25 in total

Review 1.  Advances in Skeletal Dysplasia Genetics.

Authors:  Krista A Geister; Sally A Camper
Journal:  Annu Rev Genomics Hum Genet       Date:  2015-04-22       Impact factor: 8.929

2.  Opsismodysplasia resulting from an insertion mutation in the SH2 domain, which destabilizes INPPL1.

Authors:  Bing Li; Deborah Krakow; Deborah A Nickerson; Michael J Bamshad; Yong Chang; Ralph S Lachman; Alev Yilmaz; Hülya Kayserili; Daniel H Cohn
Journal:  Am J Med Genet A       Date:  2014-06-20       Impact factor: 2.802

3.  PRIMUS: rapid reconstruction of pedigrees from genome-wide estimates of identity by descent.

Authors:  Jeffrey Staples; Dandi Qiao; Michael H Cho; Edwin K Silverman; Deborah A Nickerson; Jennifer E Below
Journal:  Am J Hum Genet       Date:  2014-10-30       Impact factor: 11.025

Review 4.  The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities.

Authors:  Jessica X Chong; Kati J Buckingham; Shalini N Jhangiani; Corinne Boehm; Nara Sobreira; Joshua D Smith; Tanya M Harrell; Margaret J McMillin; Wojciech Wiszniewski; Tomasz Gambin; Zeynep H Coban Akdemir; Kimberly Doheny; Alan F Scott; Dimitri Avramopoulos; Aravinda Chakravarti; Julie Hoover-Fong; Debra Mathews; P Dane Witmer; Hua Ling; Kurt Hetrick; Lee Watkins; Karynne E Patterson; Frederic Reinier; Elizabeth Blue; Donna Muzny; Martin Kircher; Kaya Bilguvar; Francesc López-Giráldez; V Reid Sutton; Holly K Tabor; Suzanne M Leal; Murat Gunel; Shrikant Mane; Richard A Gibbs; Eric Boerwinkle; Ada Hamosh; Jay Shendure; James R Lupski; Richard P Lifton; David Valle; Deborah A Nickerson; Michael J Bamshad
Journal:  Am J Hum Genet       Date:  2015-07-09       Impact factor: 11.025

5.  A second locus for Schneckenbecken dysplasia identified by a mutation in the gene encoding inositol polyphosphate phosphatase-like 1 (INPPL1).

Authors:  Hane Lee; Lisette Nevarez; Ralph S Lachman; William R Wilcox; Deborah Krakow; Daniel H Cohn
Journal:  Am J Med Genet A       Date:  2015-05-22       Impact factor: 2.802

Review 6.  The impact of phosphoinositide 5-phosphatases on phosphoinositides in cell function and human disease.

Authors:  Ana Raquel Ramos; Somadri Ghosh; Christophe Erneux
Journal:  J Lipid Res       Date:  2018-09-07       Impact factor: 5.922

7.  Pathogenic variants for Mendelian and complex traits in exomes of 6,517 European and African Americans: implications for the return of incidental results.

Authors:  Holly K Tabor; Paul L Auer; Seema M Jamal; Jessica X Chong; Joon-Ho Yu; Adam S Gordon; Timothy A Graubert; Christopher J O'Donnell; Stephen S Rich; Deborah A Nickerson; Michael J Bamshad
Journal:  Am J Hum Genet       Date:  2014-07-31       Impact factor: 11.025

Review 8.  INPPL1 gene mutations in opsismodysplasia.

Authors:  Anaïs Fradet; Jamie Fitzgerald
Journal:  J Hum Genet       Date:  2016-10-06       Impact factor: 3.172

9.  An overview of inborn errors of complex lipid biosynthesis and remodelling.

Authors:  Foudil Lamari; Fanny Mochel; Jean-Marie Saudubray
Journal:  J Inherit Metab Dis       Date:  2014-09-20       Impact factor: 4.982

10.  Yunis-Varón syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatase.

Authors:  Philippe M Campeau; Guy M Lenk; James T Lu; Yangjin Bae; Lindsay Burrage; Peter Turnpenny; Jorge Román Corona-Rivera; Lucia Morandi; Marina Mora; Heiko Reutter; Anneke T Vulto-van Silfhout; Laurence Faivre; Eric Haan; Richard A Gibbs; Miriam H Meisler; Brendan H Lee
Journal:  Am J Hum Genet       Date:  2013-04-25       Impact factor: 11.025
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