[The clinical manifestation and linkage analysis in one Chinese family with congenital fibrosis of extraocular muscles].
OBJECTIVE
To describe the clinical phenotype in a Chinese family with congenital fibrosis of extraocular muscles and to identify the location of candidate gene of the disease in chromosome.


METHODS
The clinical feature of all affected members in this family were examined. A genome-wide linkage screening was conducted. Direct genomic sequencing was used to evaluate the candidate gene KIf21A.


RESULTS
Four affected members in the pedigree were born with classic phenotype of CFEOM. By linkage analysis the disease gene was mapped to chromosomal region 12p11.2-q12 defined by microsatellite markers D12S1648 and D12S1668. The maximum Lod Score was 2.12 (D12S1090). Direct sequence showed no mutation in all exons and exon-intron boundaries of the candidate gene KIF21A, a polymorphism substitution occurred in the exon 21.


CONCLUSIONS
The disorder in this family should be referred as CFEOM1 which was inherited as an autosomal dominant trait. The candidate gene was linked to CFEOM1 locus on chromosome 12p11.2-q12, between marker D12S1648 and D12S1668. It's more likely that KIf21A is not the disease causing gene in this family.
Zhao
Chen
C
Tianjin Eye Hospital, Tianjin 300040, China.
Lu
Sha-sha
SS
Li
Ning-dong
ND
Chen
Wei-ying
WY
Zhao
Kan-xing
KX
D044466:Asian People / Q000235:genetics; D001483:Base Sequence; D001763:Blepharoptosis / Q000208:ethnology / Q000235:genetics* / Q000473:pathology; D002681:China; D002881:Chromosomes, Human, Pair 12 / Q000235:genetics*; D005260:Female; D005355:Fibrosis / Q000151:congenital / Q000235:genetics; D008040:Genetic Linkage; D020022:Genetic Predisposition to Disease; D006801:Humans; D008126:Lod Score; D008297:Male; D018895:Microsatellite Repeats; D009801:Oculomotor Muscles / Q000473:pathology*; D009886:Ophthalmoplegia / Q000208:ethnology / Q000235:genetics* / Q000473:pathology; D010375:Pedigree; D010641:Phenotype; D017422:Sequence Analysis, DNA; D013577:Syndrome