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

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

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.

MeSH terms

  • Adult
  • Asian Continental Ancestry Group / genetics*
  • Base Sequence
  • Child
  • China
  • Cytoskeletal Proteins / genetics*
  • DNA Mutational Analysis
  • Exons / genetics
  • Female
  • Frameshift Mutation*
  • Genetic Diseases, X-Linked / genetics*
  • Genetic Diseases, X-Linked / physiopathology
  • Humans
  • Male
  • Membrane Proteins / genetics*
  • Nystagmus, Congenital / genetics*
  • Nystagmus, Congenital / physiopathology
  • Sequence Deletion

Substances

  • Cytoskeletal Proteins
  • FRMD7 protein, human
  • Membrane Proteins

Supplementary concepts

  • X-Linked Infantile Nystagmus