Abstract

Doc number: 51

Abstract

Background: SHORT syndrome is a rare autosomal dominant condition whose name is the acronym of short stature, hyperextensibility of joints, ocular depression, Rieger anomaly and teething delay (MIM 269880). Additionally, the patients usually present a low birth weight and height, lipodystrophy, delayed bone age, hernias, low body mass index and a progeroid appearance.

Case presentation: In this study, we used whole-exome sequencing approaches in two patients with clinical features of SHORT syndrome. We report the finding of a novel mutation in PIK3R1 (c.1929_1933delTGGCA; p.Asp643Aspfs*8), as well as a recurrent mutation c.1945C > T (p.Arg649Trp) in this gene.

Conclusions: We found a novel frameshift mutation in PIK3R1 (c.1929_1933delTGGCA; p.Asp643Aspfs*8) which consists of a deletion right before the site of substrate recognition. As a consequence, the protein lacks the position that interacts with the phosphotyrosine residue of the substrate, resulting in the development of SHORT syndrome.

Details

Title
Exome sequencing identifies a novel mutation in PIK3R1 as the cause of SHORT syndrome
Author
Bárcena, Clea; Quesada, Víctor; De Sandre-Giovannoli, Annachiara; Puente, Diana A; Fernández-Toral, Joaquín; Sigaudy, Sabine; Baban, Anwar; Lévy, Nicolas; Velasco, Gloria; López-Otín, Carlos
Pages
51
Publication year
2014
Publication date
2014
Publisher
BioMed Central
e-ISSN
14712350
Source type
Scholarly Journal
Language of publication
English
DOI
https://doi.org/10.1186/1471-2350-15-51
ProQuest document ID
1525031402
Copyright
© 2014 Bárcena et al.; licensee BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly credited. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.