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.
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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