Annals of Laboratory Medicine
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34(02) 134-138
Identification of a De Novo Heterozygous Missense FLNB Mutation in Lethal Atelosteogenesis Type I by Exome Sequencing
Ga Won Jeon, M.D.1,*, Mi-Na Lee, M.D.2,*, Ji Mi Jung, M.D.1, Seong Yeon Hong, M.D.3, Young Nam Kim, M.D.4, Jong Beom Sin, M.D.1, and Chang-Seok Ki, M.D.2
Department of Pediatrics1, Inje University College of Medicine, Busan Paik Hospital, Busan; Department of Laboratory Medicine and Genetics2, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul; Department of Obstetrics and Gynecology3, Catholic University of Daegu, Daegu Catholic University Medical Center, Daegu; Department of Obstetrics and Gynecology4, Inje University College of Medicine, Busan Paik Hospital, Busan, Korea
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.
Ann Lab Med 2014 Mar; 34(02) 134-138
Keyword : Atelosteogenesis type I, FLNB, Mutation, Exome sequencing