J Korean Bal Soc.
2007 Dec;6(2):155-160.
Novel Mutation in FRMD7 Gene in X-linked Congenital Nystagmus
- Affiliations
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- 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
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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.
