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Annals of Laboratory Medicine ; : 134-138, 2014.
Artículo en Inglés | WPRIM | ID: wpr-110411

RESUMEN

BACKGROUND: Atelosteogenesis type I (AO-I) is a rare lethal skeletal dysplastic disorder characterized by severe short-limbed dwarfism and dislocated hips, knees, and elbows. AO-I is caused by mutations in the filamin B (FLNB) gene; however, several other genes can cause AO-like lethal skeletal dysplasias. METHODS: In order to screen all possible genes associated with AO-like lethal skeletal dysplasias simultaneously, we performed whole-exome sequencing in a female newborn having clinical features of AO-I. RESULTS: Exome sequencing identified a novel missense variant (c.517G>A; p.Ala173Thr) in exon 2 of the FLNB gene in the patient. Sanger sequencing validated this variant, and genetic analysis of the patient's parents suggested a de novo occurrence of the variant. CONCLUSIONS: This study shows that exome sequencing can be a useful tool for the identification of causative mutations in lethal skeletal dysplasia patients.


Asunto(s)
Femenino , Humanos , Recién Nacido , Exoma , Filaminas/química , Frecuencia de los Genes , Heterocigoto , Mutación Missense , Osteocondrodisplasias/genética , Polimorfismo de Nucleótido Simple , Análisis de Secuencia de ADN
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