FRMD7 mutations in Chinese families with X-linked congenital motor nystagmus.
PURPOSE: To identify mutations causing X-linked congenital motor nystagmus (XL-CMN) in Chinese families. METHODS: Genomic DNA was prepared from peripheral blood leukocytes. Cycle sequencing was used to detect the sequence variation of the FERM domain containing 7 (FRMD7) gene, where mutations have been identified recently to associate with XL-CMN. RESULTS: Sequencing of the coding and the adjacent intron regions of FRMD7 identified mutations in four families with XL-CMN, c.41-43delAGA (p.Lys14del) in exon 1, c.70G>A (p.Gly24Arg) in exon 2, c.436C>T (p.Arg146Trp) in exon 6, and c.685C>T (p.Arg229Cys) in exon 8, respectively, where the last two were novel. These mutations were not detected in 196 normal controls. In the two families with X-linked recessive CMN, females carrying a heterozygous mutation in FRMD7 did not have any sign of nystagmus. CONCLUSIONS: Our results provide additional evidence for mutations in FRMD7 as a common cause of XL-CMN and expand its mutation spectrum. CMN in a Chinese family with pure X-linked recessive pattern, previously mapped to Xq23-q27, is associated with the c.41-43delAGA mutation in FRMD7.[1]References
- FRMD7 mutations in Chinese families with X-linked congenital motor nystagmus. Zhang, Q., Xiao, X., Li, S., Guo, X. Mol. Vis. (2007) [Pubmed]
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