The first familial case of inherited 2q37.3 interstitial deletion with isolated skeletal abnormalities including brachydactyly type E and short stature. (17th November 2014)

• Record Type: Journal Article
• Authors: Jean‐Marçais, Nolwenn; Decamp, Matthieu; Gérard, Marion; Ribault, Virginie; Andrieux, Joris; Kottler, Marie‐Laure; Plessis, Ghislaine
• Is Part Of: American journal of medical genetics. Volume 167:Number 1(2015:Jan.)
• Page Start: 185
• Page End: 189
• Publication Date: 2014-11-17
• Subjects: Medical genetics -- Periodicals; 616.14205
• DOI: 10.1002/ajmg.a.36428
• Languages: English
• ISSNs: 1552-4825

Abstract

<abstract abstract-type="main"> <title> <x xml:space="preserve">Abstract</x> </title> <sec id="ajmga36428-sec-0001" sec-type="section"> <p>Albright hereditary osteodystrophy (AHO)‐like syndrome is also known as brachydactyly‐mental retardation syndrome (BDMR; OMIM 60040). This disorder includes intellectual disability in all patients, skeletal abnormalities, including brachydactyly E (BDE) in approximately half, obesity, and facial dysmorphism. Patients with 2q37 microdeletion or <italic>HDAC4</italic> mutation are defined as having an AHO‐like phenotype with normal stimulatory G (Gs) function. <italic>HDAC4</italic> is involved in neurological, cardiac, and skeletal function. This paper reports the first familial case of 2q37.3 interstitial deletion affecting two genes, <italic>HDAC4</italic> and <italic>TWIST2</italic>. Patients presented with BDE and short stature without intellectual disability, showing that haploinsufficiency of the <italic>HDAC4</italic> critical region may lead to a spectrum of phenotypes, ranging from isolated brachydactyly type E to BDMR. © 2014 Wiley Periodicals, Inc.</p> </sec> </abstract>