A novel frameshift mutation in FRMD7 causes X-linked infantile nystagmus in a Chinese family

Junjue Chen,
Yan Wei,
Linlu Tian and
Xiaoli KangEmail author View ORCID ID profile

BMC Medical Genetics201920:5

https://doi.org/10.1186/s12881-018-0720-8

Received: 26 March 2018
Accepted: 14 November 2018
Published: 7 January 2019

Open Peer Review reports

Abstract

Background

Infantile nystagmus (IN) is an oculomotor disorder that is characterized by conjugate involuntary, rapid and repetitive movement of the eyes. To date, the pathogenesis of IN remains unclear. Many patients show an X-linked inheritance pattern. In this study, we explored the mutation in the FERM domain-containing 7 (FRMD7) gene in a Chinese family with X-linked infantile nystagmus.

Methods

We conducted comprehensive ocular examinations and collected 5 ml of blood samples from members of a family with X-linked IN and 100 normal controls. Mutations in FRMD7 were identified by sequencing PCR products.

Results

We found a 7-bp deletion(c.823-829delACCCTAC) in the 9th exon of FRMD7 in a Chinese family with IN, which predicted a truncation of the protein.

Conclusions

This study reported a novel mutation of the FRMD7 gene occurred in a Chinese family with IN, thus expanding the spectrum of FRMD7 mutations causing IN, and further confirming that the mutations of FRMD7 are the underlying molecular cause of IN.