Display Settings:

Format

Send to:

Choose Destination
See comment in PubMed Commons below
Mol Vis. 2007 Aug 3;13:1375-8.

FRMD7 mutations in Chinese families with X-linked congenital motor nystagmus.

Author information

  • 1State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, China. qingjiongzhang@yahoo.com

Abstract

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.

PMID:
17768376
[PubMed - indexed for MEDLINE]
Free full text
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for Molecular Vision
    Loading ...
    Write to the Help Desk