Exome sequencing identifies a novel mutation in PIK3R1 as the cause of SHORT syndrome.
BMC Med Genet
; 15: 51, 2014 May 02.
Article
em En
| MEDLINE
| ID: mdl-24886349
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.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Fosfatidilinositol 3-Quinases
/
Transtornos do Crescimento
/
Hipercalcemia
/
Doenças Metabólicas
/
Mutação
/
Nefrocalcinose
Tipo de estudo:
Prognostic_studies
Limite:
Child, preschool
/
Humans
/
Infant
/
Male
Idioma:
En
Revista:
BMC Med Genet
Assunto da revista:
GENETICA MEDICA
Ano de publicação:
2014
Tipo de documento:
Article