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J Korean Bal Soc > Volume 6(2); 2007 > Article
Journal of the Korean Balance Society 2007;6(2): 155-160.
X-연관 선천성 안진에서 FRMD7의 새로운 돌연변이
, , , , , 오선영, 신병수, 서만욱, 기창석, 황정민, 김지수
전북대학교 의과대학 신경과학교실1, 서울대학교 의과대학 신경과학교실2, 성균관대학교 의과대학 진단검사의학교실3, 서울대학교 의과대학 안과학교실4
Novel Mutation in FRMD7 Gene in X-linked Congenital Nystagmus
Sun Young Oh, Byoung Soo Shin, Man Wook Seo, Chang Seok Ki, Jeong Min Hwang, Ji Soo Kim
1Department of Neurology, Chonbuk National University College of Medicine, Korea.
2Department of Neurology, Seoul National University College of Medicine, Korea. jisookim@snu.ac.kr
3Department of Laboratory Medicine and Genetics, Sungkyunkwan University College of Medicine, Korea.
4Department of Ophthalmology, Seoul National University College of Medicine, Korea.
ABSTRACT
Background and Objectives:   Congenital nystagmus (CN) is an ocular oscillation that usually manifests during early infancy. To report a novel mutation in FERM domain containing 7 (FRMD7) gene in a Korean family with CN.
Materials and Methods:  
Genomic DNA was prepared from peripheral blood leukocytes and direct sequencing of the entire coding and adjacent intronic regions was performed to detect sequence variation of FRMD7 gene, where mutations were found recently in patients with familial CN. The family showed an X-linked pattern of inheritance without father-to-son transmission.
Results:  
Three family members with CN exhibited two sequence variations which were a novel mutation (c. 875T>C; Leu292Pro) and a polymorphism (c. 1403G>A; Arg468His, dbSNP rs#6637934). The proband was hemizygous for both variations and his mother and maternal grandmother were heterozygous carriers.
Conclusion:  
This study provides an additional evidence for mutations in FRMD7 as a common cause of X-linked CN and expands its mutation spectrum.
Keywords: Congenital nystagmus; FRMD7; Oculography
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