Identification of a De Novo Heterozygous Missense FLNB Mutation in Lethal Atelosteogenesis Type I by Exome Sequencing
Annals of Laboratory Medicine
;
: 134-138, 2014.
Artigo
em Inglês
| WPRIM
| ID: wpr-110411
ABSTRACT
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.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Osteocondrodisplasias
/
Análise de Sequência de DNA
/
Mutação de Sentido Incorreto
/
Polimorfismo de Nucleotídeo Único
/
Exoma
/
Filaminas
/
Frequência do Gene
/
Heterozigoto
Tipo de estudo:
Estudo diagnóstico
Limite:
Feminino
/
Humanos
/
Recém-Nascido
Idioma:
Inglês
Revista:
Annals of Laboratory Medicine
Ano de publicação:
2014
Tipo de documento:
Artigo
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