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

Clea Bárcena, Víctor Quesada, Annachiara De Sandre-Giovannoli, Diana A. Puente, Joaquín Fernández-Toral, Sabine Sigaudy, Anwar Baban, Nicolas Lévy, Gloria Velasco, Carlos López-Otín

Research output: Contribution to journalArticlepeer-review


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. 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. 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.

Original languageEnglish
JournalBMC Medical Genetics
Publication statusPublished - 2014

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics


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