PMID- 21983718
OWN - NLM
STAT- MEDLINE
DCOM- 20111209
LR  - 20221207
IS  - 1003-9406 (Print)
IS  - 1003-9406 (Linking)
VI  - 28
IP  - 5
DP  - 2011 Oct
TI  - [Mutation analysis of KIF21A gene in a Chinese family with congenital fibrosis of 
      the extraocular muscles type I].
PG  - 490-2
LID - 10.3760/cma.j.issn.1003-9406.2011.05.003 [doi]
AB  - OBJECTIVE: To determine the mutation responsible for the congenital fibrosis of 
      the extraocular muscles type I(CFEOM1) in a Chinese family. METHODS: Direct 
      sequencing of exons 20 and 21 in the KIF21A gene was performed for the proband. 
      The mutation c.2860C to T in exon 21 was examined by allele specific-PCR (AS-PCR) 
      analysis in other family members. Haplotype analysis was performed using four STR 
      markers (D12S1668, D12S2194, D12S331 and D12S1048). RESULTS: A heterozygous 
      mutation c.2860C to T in the KIF21A gene was identified in all three affected 
      members with CFEOM1. Haplotype analysis suggested that the mutation might derive 
      from maternal germline mosaicism. CONCLUSION: This Chinese family with CFEOM1 may 
      be caused by a c.2860C to T mutation in the KIF21A gene.
FAU - Yan, You-sheng
AU  - Yan YS
AD  - Department of Medical Genetics and Cell Biology, Ningxia Medical University, 
      People's Republic of China.
FAU - Hao, Sheng-ju
AU  - Hao SJ
FAU - Wang, Gang
AU  - Wang G
FAU - Peng, Liang
AU  - Peng L
FAU - Hu, Xiao-ping
AU  - Hu XP
FAU - Jiao, Hai-yan
AU  - Jiao HY
LA  - chi
PT  - Journal Article
PL  - China
TA  - Zhonghua Yi Xue Yi Chuan Xue Za Zhi
JT  - Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese 
      journal of medical genetics
JID - 9425197
RN  - 0 (KIF21A protein, human)
RN  - EC 3.6.4.4 (Kinesins)
SB  - IM
MH  - Alleles
MH  - Asian People/genetics
MH  - Base Sequence
MH  - Child
MH  - China
MH  - Exons
MH  - Female
MH  - Fibrosis
MH  - Haplotypes
MH  - Humans
MH  - Kinesins/*genetics
MH  - Mutation/*genetics
MH  - Oculomotor Muscles/metabolism/*pathology
MH  - Pedigree
MH  - Phenotype
MH  - Syndrome
EDAT- 2011/10/11 06:00
MHDA- 2011/12/14 06:00
CRDT- 2011/10/11 06:00
PHST- 2011/10/11 06:00 [entrez]
PHST- 2011/10/11 06:00 [pubmed]
PHST- 2011/12/14 06:00 [medline]
AID - 940628096 [pii]
AID - 10.3760/cma.j.issn.1003-9406.2011.05.003 [doi]
PST - ppublish
SO  - Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2011 Oct;28(5):490-2. doi: 
      10.3760/cma.j.issn.1003-9406.2011.05.003.