Exome sequencing identifies PDE4D mutations as another cause of acrodysostosis.

doi:10.1016/j.ajhg.2012.03.003

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Article

Exome sequencing identifies PDE4D mutations as another cause of acrodysostosis.

American journal of human genetics - 6 Apr 2012

Michot Caroline, Le Goff Carine, Goldenberg Alice, Abhyankar Avinash, Klein Céline, Kinning Esther, Guerrot Anne-Marie, Flahaut Philippe, Duncombe Alice, Baujat Genevieve, Lyonnet Stanislas, Thalassinos Caroline, Nitschke Patrick, Casanova Jean-Laurent, Le Merrer Martine, Munnich Arnold, Cormier-Daire Valérie

Abstract excerpt

Acrodysostosis is a rare autosomal-dominant condition characterized by facial dysostosis, severe brachydactyly with cone-shaped epiphyses, and short stature. Moderate intellectual disability and resistance to multiple hormones might also be present. Recently, a recurrent mutation (c.1102C>T [p.Arg368*]) in PRKAR1A has been identified in three individuals with acrodysostosis and resistance to multiple hormones....

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PMID: 22464250
DOI: 10.1016/j.ajhg.2012.03.003
PMCID: PMC3322219

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Related research

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Exome sequencing identifies PDE4D mutations as another cause of acrodysostosis.PMID 22464250Read ↗

Exome sequencing identifies PDE4D mutations in acrodysostosis.Semantic proximity Read ↗

Identification of novel mutations confirms PDE4D as a major gene causing acrodysostosis.Semantic proximity Read ↗

Expanding the phenotypic spectrum of variants in PDE4D/PRKAR1A: from acrodysostosis to acroscyphodysplasia.Semantic proximity Read ↗

A novel variant in the PDE4D gene is the cause of Acrodysostosis type 2 in a Lithuanian patient: a case report.Semantic proximity Read ↗

Phenotypic Variability in a Family with Acrodysostosis Type 2 Caused by a Novel PDE4D Mutation Affecting the Serine Target of Protein Kinase-A Phosphorylation.Semantic proximity Read ↗

The first mutation identified in a Chinese acrodysostosis patient confirms a p.G289E variation of PRKAR1A causes acrodysostosis.Semantic proximity Read ↗

Novel mutations of the PRKAR1A gene in patients with acrodysostosis.Semantic proximity Read ↗

PRKAR1A mutation affecting cAMP-mediated G protein-coupled receptor signaling in a patient with acrodysostosis and hormone resistance.Semantic proximity Read ↗

[Genes in the cAMP pathway causing skeletal dysplasia with or without hormonal resistance].Semantic proximity Read ↗

Different mutations in PDE4D associated with developmental disorders with mirror phenotypes.Semantic proximity Read ↗

Reduced PDE4D expression and activity in Acrodysostosis Type 2 patient fibroblasts underlie disease pathologySemantic proximity Read ↗

Mutations causing acrodysostosis-2 facilitate activation of phosphodiesterase 4D3.Semantic proximity Read ↗

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