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KMID : 1100720140340020134
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Annals of Laboratory Medicine
2014 Volume.34 No. 2 p.134 ~ p.138
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Identification of a De Novo Heterozygous Missense FLNB Mutation in Lethal Atelosteogenesis Type I by Exome Sequencing
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Jeon Ga-Won
Lee Mi-Na
Jung Ji-Mi
Hong Seong-Yeon
Kim Young-Nam
Sin Jong-Beom
Ki Chang-Seok
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Abstract
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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.
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KEYWORD
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Atelosteogenesis type I, FLNB, Mutation, Exome sequencing
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