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Войти в исследования BMC medical genetics · 2014
Exome sequencing identifies a novel mutation in PIK3R1 as the cause of SHORT syndrome.
Клинический случайСтатьяПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод пока не подготовлен
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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
Аннотация
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.
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.
Предметные рубрики MeSH
Amino Acid SubstitutionChild, PreschoolClass Ia Phosphatidylinositol 3-KinaseDNA Mutational AnalysisExomeFaciesGrowth DisordersHigh-Throughput Nucleotide SequencingHumansHypercalcemiaInfantMaleMetabolic DiseasesModels, MolecularMutationNephrocalcinosisPhenotypePhosphatidylinositol 3-KinasesProtein Conformation