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[The clinical manifestation and linkage analysis in one Chinese family with congenital fibrosis of extraocular muscles].
- Source :
-
[Zhonghua yan ke za zhi] Chinese journal of ophthalmology [Zhonghua Yan Ke Za Zhi] 2005 Jul; Vol. 41 (7), pp. 594-9. - Publication Year :
- 2005
-
Abstract
- 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.<br />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.<br />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.<br />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.
- Subjects :
- Asian People genetics
Base Sequence
Blepharoptosis ethnology
Blepharoptosis pathology
China
Female
Fibrosis congenital
Fibrosis genetics
Genetic Linkage
Humans
Lod Score
Male
Microsatellite Repeats
Ophthalmoplegia ethnology
Ophthalmoplegia pathology
Pedigree
Phenotype
Sequence Analysis, DNA
Syndrome
Blepharoptosis genetics
Chromosomes, Human, Pair 12 genetics
Genetic Predisposition to Disease
Oculomotor Muscles pathology
Ophthalmoplegia genetics
Subjects
Details
- Language :
- Chinese
- ISSN :
- 0412-4081
- Volume :
- 41
- Issue :
- 7
- Database :
- MEDLINE
- Journal :
- [Zhonghua yan ke za zhi] Chinese journal of ophthalmology
- Publication Type :
- Academic Journal
- Accession number :
- 16080892