Novel mutation c.980_983delATTA compound with c.986C>A mutation of the FRMD7 gene in a Chinese family with X-linked idiopathic congenital nystagmus.

Abstract

OBJECTIVE:

To screen mutations in FERM domain-containing protein 7 (FRMD7) gene in two Chinese families with X-linked idiopathic congenital nystagmus (XLICN).

METHODS:

Common ophthalmic data and peripheral blood of two Chinese XLICN families (families A and B) were collected after informed consent. Genomic DNA was prepared from the peripheral blood of members of the two families and from 100 normal controls. Mutations in the FRMD7 gene were determined by directly sequencing polymerase chain reaction (PCR) products.

RESULTS:

We identified a novel mutation c.980_983delATTA compound with c.986C>A mutation in the 11th exon of FRMD7 in family B, and a previously reported splicing mutation c.781C>G (p.R261G) [corrected] in family A. The mutations were detected in patients and female carriers, while they were absent in other relatives or in the 100 normal controls.

CONCLUSIONS:

Our results expand the spectrum of FRMD7 mutations in association with XLICN, and further confirm that the mutations of FRMD7 are the underlying molecular mechanism for XLICN.

• Authors: Feng-wei Song, Bin-bin Chen, Zhao-hui Sun, Li-ping Wu, Su-juan Zhao, Qi Miao, Xia-jing Tang
• Journal: Journal of Zhejiang University. Science. B (J Zhejiang Univ Sci B) Vol. 14 Issue 6 Pg. 479-86 (Jun 2013) ISSN: 1862-1783 [Electronic] China
• PMID: 23733424 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Cytoskeletal Proteins
• FRMD7 protein, human
• Membrane Proteins

Topics

• Adolescent
• Adult
• Child
• China
• Cytoskeletal Proteins (genetics)
• Female
• Genetic Diseases, X-Linked (diagnosis, genetics)
• Genetic Predisposition to Disease (genetics)
• Humans
• Male
• Membrane Proteins (genetics)
• Mutation, Missense (genetics)
• Nystagmus, Congenital (diagnosis, genetics)
• Pedigree
• Polymorphism, Single Nucleotide (genetics)
• Young Adult