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

Détails

ID Serval
serval:BIB_DAC223FFD7BD
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Titre
Whole-genome analysis reveals that mutations in inositol polyphosphate phosphatase-like 1 cause opsismodysplasia.
Périodique
American Journal of Human Genetics
Auteur(s)
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.
Collaborateur(s)
University of Washington Center for Mendelian Genomics
ISSN
1537-6605 (Electronic)
ISSN-L
0002-9297
Statut éditorial
Publié
Date de publication
12/2013
Peer-reviewed
Oui
Volume
92
Numéro
1
Pages
137-143
Langue
anglais
Notes
Publication types: Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't ; Research Support, U.S. Gov't, P.H.S.
Publication Status: ppublish
Résumé
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.
Mots-clé
Child, Child, Preschool, Female, Genome, Human, Humans, Infant, Infant, Newborn, Male, Mutation, Osteochondrodysplasias/genetics, Phosphoric Monoester Hydrolases/genetics
Pubmed
Web of science
Open Access
Oui
Création de la notice
22/01/2014 15:36
Dernière modification de la notice
09/05/2019 2:05
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