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Identification of a De Novo Heterozygous Missense FLNB Mutation in Lethal Atelosteogenesis Type I by Exome Sequencing
Annals of Laboratory Medicine ; : 134-138, 2014.
Article in English | 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.
Subject(s)

Full text: Available Index: WPRIM (Western Pacific) Main subject: Osteochondrodysplasias / Sequence Analysis, DNA / Mutation, Missense / Polymorphism, Single Nucleotide / Exome / Filamins / Gene Frequency / Heterozygote Type of study: Diagnostic study Limits: Female / Humans / Infant, Newborn Language: English Journal: Annals of Laboratory Medicine Year: 2014 Type: Article

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Full text: Available Index: WPRIM (Western Pacific) Main subject: Osteochondrodysplasias / Sequence Analysis, DNA / Mutation, Missense / Polymorphism, Single Nucleotide / Exome / Filamins / Gene Frequency / Heterozygote Type of study: Diagnostic study Limits: Female / Humans / Infant, Newborn Language: English Journal: Annals of Laboratory Medicine Year: 2014 Type: Article