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Identification of a de novo heterozygous missense FLNB mutation in lethal atelosteogenesis type I by exome sequencing

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. In o...

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Published in:Annals of laboratory medicine 2014-03, Vol.34 (2), p.134-138
Main Authors: Jeon, Ga Won, Lee, Mi-Na, Jung, Ji Mi, Hong, Seong Yeon, Kim, Young Nam, Sin, Jong Beom, Ki, Chang-Seok
Format: Article
Language:English
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Summary: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. 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. 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. This study shows that exome sequencing can be a useful tool for the identification of causative mutations in lethal skeletal dysplasia patients.
ISSN:2234-3806
2234-3814
DOI:10.3343/alm.2014.34.2.134