Article
Identification of a de novo heterozygous missense FLNB mutation in lethal atelosteogenesis type I by exome sequencing.
Annals of laboratory medicine - 1 Mar 2014
Jeon Ga Won, Lee Mi-Na, Jung Ji Mi, Hong Seong Yeon, Kim Young Nam, Sin Jong Beom, Ki Chang-Seok
Abstract excerpt
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...
Topics
- Exome
- Female
- Filamins
- Gene Frequency
- Heterozygote
- Humans
- Infant, Newborn
- Mutation, Missense
- Osteochondrodysplasias
- Polymorphism, Single Nucleotide
- Radiography