Exome sequencing identifies a novel mutation in PIK3R1 as the cause of SHORT syndrome.

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.
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BMC Medical Genetics, BioMed Central, 2014, 15 (1), pp.51. 〈10.1186/1471-2350-15-51〉
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Clea Bárcena, Víctor Quesada, Annachiara De Sandre-Giovannoli, Diana Puente, Joaquín Fernández-Toral, et al.. Exome sequencing identifies a novel mutation in PIK3R1 as the cause of SHORT syndrome.. BMC Medical Genetics, BioMed Central, 2014, 15 (1), pp.51. 〈10.1186/1471-2350-15-51〉. 〈inserm-00991292〉

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