Mutation p.Arg954Trp of KIF21A causes congenital fibrosis of the extraocular muscles in a Chinese family.
Congenital fibrosis of the extraocular muscles type 1 (CFEOM1) is an autosomal dominant strabismus disorder associated with defects of the oculomotor nerve. In this study, we identified a Chinese family with CFEOMI for four generations. Linkage analysis mapped the causative gene of the family to 12q with a Lod score 2.1 for polymorphic marker D12S85, where KIF21A is located. Direct DNA sequence analysis identified a 2860C-->T change in exon 21, resulting in a tryptophan substitution for arginine in codon 954 of KIF21A. SSCP (single-stranded conformational polymorphism) analysis showed that mutation p.Arg954Trp of KIF21A co-segregated with the affected members, but was absent in the unaffected individuals in the family and 150 normal controls. Our results indicate that mutation p.Arg954Trp of the KIF21A is the genetic basis of the Chinese family with CFEOM1.
Zhang
Xian-Qin
XQ
Center for Human Genome Research, College of Life Science and Technology, Huazhong University of Science and Technology, Wuhan, China.
Peng
Jian-Hong
JH
Tang
Zhao-Hui
ZH
Xu
Cheng-Qi
CQ
Zhou
Xin
X
Gong
Shu-Xian
SX
Liu
Jing-Yu
JY
Wang
Qing
Q
Liu
Mu-Gen
MG
D019943:Amino Acid Substitution; D001120:Arginine / Q000235:genetics; D044466:Asian People / Q000235:genetics; D005260:Female; D005355:Fibrosis / Q000235:genetics*; D006801:Humans; D016547:Kinesins / Q000235:genetics* / Q000502:physiology; D008297:Male; D009154:Mutation; D009801:Oculomotor Muscles / Q000503:physiopathology; D009886:Ophthalmoplegia / Q000235:genetics*; D010375:Pedigree; D014364:Tryptophan / Q000235:genetics; D055815:Young Adult
C119023:KIF21A protein, human; D014364:Tryptophan; D001120:Arginine; D016547:Kinesins