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 journalArticle

Abstract

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
Volume15
DOIs
Publication statusPublished - 2014

Fingerprint

Exome
Mutation
Tooth Eruption
Lipodystrophy
Frameshift Mutation
Phosphotyrosine
Low Birth Weight Infant
Hernia
Names
Body Mass Index
Joints
Bone and Bones
Genes
Proteins

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Bárcena, C., Quesada, V., De Sandre-Giovannoli, A., Puente, D. A., Fernández-Toral, J., Sigaudy, S., ... López-Otín, C. (2014). Exome sequencing identifies a novel mutation in PIK3R1 as the cause of SHORT syndrome. BMC Medical Genetics, 15. https://doi.org/10.1186/1471-2350-15-51

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

In: BMC Medical Genetics, Vol. 15, 2014.

Research output: Contribution to journalArticle

Bárcena, C, Quesada, V, De Sandre-Giovannoli, A, Puente, DA, Fernández-Toral, J, Sigaudy, S, Baban, A, Lévy, N, Velasco, G & López-Otín, C 2014, 'Exome sequencing identifies a novel mutation in PIK3R1 as the cause of SHORT syndrome.', BMC Medical Genetics, vol. 15. https://doi.org/10.1186/1471-2350-15-51
Bárcena C, Quesada V, De Sandre-Giovannoli A, Puente DA, Fernández-Toral J, Sigaudy S et al. Exome sequencing identifies a novel mutation in PIK3R1 as the cause of SHORT syndrome. BMC Medical Genetics. 2014;15. https://doi.org/10.1186/1471-2350-15-51
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. / Exome sequencing identifies a novel mutation in PIK3R1 as the cause of SHORT syndrome. In: BMC Medical Genetics. 2014 ; Vol. 15.
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