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- Title
Exome sequencing identifies a novel mutation in PIK3R1 as the cause of SHORT syndrome.
- Authors
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
- 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.
- Subjects
POLYCYSTIC kidney disease; SHORT stature; JOINT hypermobility; DENTITION; BODY mass index; LIPODYSTROPHY; PHOSPHOTYROSINE
- Publication
BMC Medical Genetics, 2014, Vol 15, Issue 1, p1
- ISSN
1471-2350
- Publication type
Article
- DOI
10.1186/1471-2350-15-51