FRMD7 mutations in Chinese families with X-linked congenitalmotor nystagmus

[摘要] Purpose: To identify mutations causing X-linked congenital motornystagmus (XL-CMN) in Chinese families.Methods: Genomic DNA was prepared from peripheral blood leukocytes.Cycle sequencing was used to detect the sequence variation of theFERM domain containing 7 (FRMD7) gene, where mutations have beenidentified recently to associate with XL-CMN.Results: Sequencing of the coding and the adjacent intron regions ofFRMD7 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) inexon 8, respectively, where the last two were novel. These mutationswere not detected in 196 normal controls. In the two families withX-linked recessive CMN, females carrying a heterozygous mutation inFRMD7 did not have any sign of nystagmus.Conclusions: Our results provide additional evidence for mutationsin FRMD7 as a common cause of XL-CMN and expand its mutationspectrum. CMN in a Chinese family with pure X-linked recessive pattern,previously mapped to Xq23-q27, is associated with the c.41-43delAGAmutation in FRMD7.

[学科分类] 生物化学/生物物理