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. 2019 Jan 7;20(1):5.
doi: 10.1186/s12881-018-0720-8.

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

Junjue Chen  1 , Yan Wei  1 , Linlu Tian  1 , Xiaoli Kang  2
Affiliations

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

Junjue Chen et al. BMC Med Genet. .

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.

Keywords: FERM domain-containing 7 (FRMD7) gene; Infantile nystagmus; Mutation.

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Conflict of interest statement

Ethics approval and consent to participate

This study was approved by the Ethics Committee of the XinHua hospital, and conformed to the tenets of the Declaration of Helsinki. Informed consent was obtained from all participants. (If the patient was a minor, the informed consent was signed by parents or guardian)

Consent for publication

We confirm that all participants in our study have given their written consents for the medical information to be published. A copy of the written consent is available for review by the editor of this Journal.

Competing interests

Not applicable

Publisher’s Note

Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

Figures

Fig. 1
Fig. 1
Sequencing chromatograms. Affected female and female carriers show a 7bp deletion c.823-829delACCCTAC, causing a frameshift mutation at codon 275(p.Thr275fs)
Fig. 2
Fig. 2
Pedigrees of this Chinese family. Filled symbols demonstrate affected patients and unfilled symbols demonstrate unaffected patients. The dotted circles show female carriers. Arrow indicates the proband. Red indicates that patients underwent a genetic test and partial clinical examination. Blue indicates that patients underwent a genetic test and complete clinical examination
See this image and copyright information in PMC

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