Identification of a novel PHOX2A gene mutation in a Chinese family with congenital fibrosis of extraocular muscles type 2.
- Author:
Jia-mei DONG
1
;
Qin SHEN
;
Jing LI
;
Wei DU
;
Hong-lei PANG
;
Shu-fang LIN
;
Juan BU
Author Information
- Publication Type:Journal Article
- MeSH: Base Sequence; Case-Control Studies; China; Female; Fibrosis; genetics; Homeodomain Proteins; genetics; Humans; Male; Molecular Sequence Data; Mutation; Ocular Motility Disorders; genetics; Oculomotor Muscles; abnormalities; Pedigree
- From: Chinese Journal of Medical Genetics 2012;29(1):5-8
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo investigate potential mutation of PHOX2A (or ARIX) gene in a Chinese family affected with congenital fibrosis of extraocular muscles tyep 2 (CFEOM2).
METHODSGenomic DNA was obtained from affected and unaffected members of the family. With an ABI PRSIM Linkage Mapping Set-MD10 kit, selected markers flanking the PHOX2A locus were used for linkage analysis. Exons of PHOX2 gene were amplified and sequenced. A total of 100 normal subjects were recruited as controls.
RESULTSGenetic linkage was found at 11q13 between D11S4151 and D11S1320 and the PHOX2A gene. DNA sequencing has identified a heterozygous mutation in the exon 2 of the gene (227T to G, N76K). The same mutation was not found in the unaffected and 100 normal controls.
CONCLUSIONA mutation of the PHOX2A gene 227T to G is responsible for the onset of congenital fibrosis of extraocular muscles type 2 in this Chinese family.
