✦ LIBER ✦

Madelung deformity in a girl with a novel and de novo mutation in the GNAS gene

✍ Scribed by Patrick Rump; Jan D.H. Jongbloed; Birgit Sikkema-Raddatz; Stefan Mundlos; Eva Klopocki; Rob B. van der Luijt

Publisher: John Wiley and Sons
Year: 2011
Tongue: English
Weight: 473 KB
Volume: 155
Category: Article
ISSN: 1552-4825
DOI: 10.1002/ajmg.a.34218

No coin nor oath required. For personal study only.

✦ Synopsis

Abstract

Madelung deformity, a congenital anomaly of the wrist with subluxation of the ulna head, is not a widely recognized feature of Albright hereditary osteodystrophy. Here, we describe a young female with a bilateral Madelung deformity, mild cognitive disability, some dysmorphic facial features, and a type E‐like brachydactyly, in whom we identified a novel and de novo mutation (c.476T>C; p.Val159Ala) in exon 6 of the GNAS gene. © 2011 Wiley‐Liss, Inc.

📜 SIMILAR VOLUMES

HDR syndrome: A novel “de novo” mutation

HDR syndrome: A novel “de novo” mutation in GATA3 gene

✍ Silvio Ferraris; Angelo Giovanni Del monaco; Emanuela Garelli; Adriana Carando; 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 185 KB 👁 1 views

A de novo missense mutation (R1623Q) of

A de novo missense mutation (R1623Q) of the SCN5A gene in a Japanese girl with sporadic long QT syndrome

✍ Hiroyuki Yamagishi; Michiko Furutani; Mitsuhiro Kamisago; Yoshiyuki Morikawa; Yo 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 50 KB 👁 1 views

Two missense mutations and a nine-nucleotide deletion of the cardiac sodium channel (SCN5A) gene have been shown to cause long QT syndrome (LQTS) in sev eral familial cases. We identified a novel missense mutation (R1623Q) of the SCN5A gene in a Japanese girl with sporadic LQTS. We used polymerase c

Novel de novo SHANK3 mutation in autisti

Novel de novo SHANK3 mutation in autistic patients

✍ Julie Gauthier; Dan Spiegelman; Amélie Piton; Ronald G. Lafrenière; Sandra Laure 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 207 KB 👁 1 views

## Abstract A number of studies have confirmed that genetic factors play an important role in autism spectrum disorder (ASD). More recently de novo mutations in the __SHANK3__ gene, a synaptic scaffolding protein, have been associated with the ASD phenotype. As part of our gene discovery strategy,

A novel mutation in the DIA1 gene in a p

A novel mutation in the DIA1 gene in a patient with methemoglobinemia type II

✍ Deniz Yilmaz; Özgür Çogǧulu; Ferda Ozkinay; Kaan Kavakli; Dirk Roos 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 41 KB 👁 1 views

Novel de novo nonsense mutation of MECP2

Novel de novo nonsense mutation of MECP2 in a patient with Rett syndrome

✍ Soo-Jeong Kim; Edwin H. Cook Jr. 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 35 KB 👁 1 views

Because of the recent identification of several mutations of methyl-CpG-binding protein 2 (MECP2) in patients with Rett syndrome (RTT), a patient with suspected RTT from an autism clinic was screened for mutations. She was found to have a novel heterozygous nonsense mutation, 129C>T (Q19X), which le

A novel mutation in the MSX2 gene in a f

A novel mutation in the MSX2 gene in a family with foramina parietalia permagna (FPP)

✍ Liesbeth Spruijt; Pieter Verdyck; Wim Van Hul; Wim Wuyts; Christine de Die-Smuld 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 94 KB 👁 1 views