[Identification of a novel PHOX2A gene mutation in a Chinese family with congenital fibrosis of extraocular muscles type 2].
OBJECTIVE
To investigate potential mutation of PHOX2A (or ARIX) gene in a Chinese family affected with congenital fibrosis of extraocular muscles tyep 2 (CFEOM2).


METHODS
Genomic 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.


RESULTS
Genetic 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.


CONCLUSIONS
A 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.
Department of Cardiology, Party School of Central Committee of C.P.C., Peking University Third Hospital, Beijing 100091, P. R. China. bujuan110@163.com.
Jia-mei
JM
Dong
Qin
Q
Shen
Jing
J
Li
Wei
W
Du
Hong-lei
HL
Pang
Shu-fang
SF
Lin
Juan
J
Bu
D001483:Base Sequence; D016022:Case-Control Studies; D002681:China; D005260:Female; D005355:Fibrosis / Q000235:genetics*; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D015835:Ocular Motility Disorders / Q000235:genetics*; D009801:Oculomotor Muscles / Q000002:abnormalities*; D010375:Pedigree
D018398:Homeodomain Proteins; C491061:PHOX2A protein, human