KIF21A gene c.2860C>T mutation in congenital fibrosis of extraocular muscles type 1 and 3
Journal
Molecular Vision
Journal Volume
11
Pages
245-248
Date Issued
2005
Author(s)
Abstract
Purpose: To determine, in Taiwanese patients, the genetic basis of congenital fibrosis of the extraocular muscles (CFEOM) type 1 and 3, a group of diseases characterized by congenital restrictive ophthalmoplegia affecting muscles innervated by the oculomotor nerve. Methods: Linkage analysis with microsatellite markers at chromosome 12q and direct sequence analysis of the KIF21A gene were performed on three families and one sporadic CFEOM case. Results: Two of the families were classified by clinical criteria as CFEOM1 and another family as CFEOM3. All three families were shown to be linked to the 12q CFEOM1 locus. Sequence analysis disclosed a heterozygous c.2860C>T mutation in the KIF21A gene in all families and in the sporadic case. Affected family members were further confirmed by a BsrDI polymorphism. Conclusions: CFEOM is present in Chinese populations. Both CFEOM1 and CFEOM3 can be caused by the same mutation at the KIF21A gene. The occurrence of this mutation in different ethnic groups suggests a mutation hot spot. ?2005 Molecular Vision.
SDGs
Other Subjects
cysteine; kinesin; protein KIF21A; threonine; unclassified drug; amino acid substitution; article; Chinese; chromosome 12q; clinical article; external ophthalmoplegia; family; gene locus; gene mutation; gene sequence; genetic polymorphism; heterozygosity; human; linkage analysis; microsatellite marker; muscle innervation; nucleotide sequence; oculomotor nerve; pathogenesis; priority journal; sequence analysis; Taiwan; Asian Continental Ancestry Group; Base Sequence; Chromosomes, Human, Pair 12; DNA Mutational Analysis; Female; Fibrosis; Humans; Kinesin; Linkage (Genetics); Male; Microsatellite Repeats; Molecular Sequence Data; Mutation; Nerve Tissue Proteins; Oculomotor Muscles; Oculomotor Nerve; Ophthalmoplegia, Chronic Progressive External; Pedigree; Phenotype; Polymerase Chain Reaction; Sequence Analysis, DNA; Taiwan
Type
journal article