Journal
BMC MEDICAL GENETICS
Volume 15, Issue -, Pages -Publisher
BIOMED CENTRAL LTD
DOI: 10.1186/1471-2350-15-51
Keywords
Aging; Diabetes; Insulin; Kinase; Lipodystrophy; Progeria
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Funding
- Ministerio de Economia y Competitividad-Spain
- Red Tematica de Investigacion del Cancer (RTICC)
- Obra Social Cajastur
- Instituto de Salud Carlos III (RTICC)
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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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