Identifcation of a Novel Mutation P.I240T in the FRMD7 Gene in a Family with Congenital Nystagmus

Overview

Journal Sci Rep

Specialty Science

Date 2013 Oct 31

PMID 24169426

Citations 9

Authors

Yihua Zhu

Jianfu Zhuang

Xianglian Ge

Xiao Zhang

Zheng Wang

Ji Sun

Juhua Yang

Feng Gu

Affiliations

Soon will be listed here.

Abstract

Congenital Nystagmus (CN) is a genetically heterogeneous ocular disease, which causes a significant proportion of childhood visual impairment. To identify the underlying genetic defect of a CN family, twenty-two members were recruited. Genotype analysis showed that affected individuals shared a common haplotype with markers flanking FRMD7 locus. Sequencing FRMD7 revealed a T > C transition in exon 8, causing a conservative substitution of Isoleucine to Tyrosine at codon 240. By protein structural modeling, we found the mutation may disrupt the hydrophobic core and destabilize the protein structure. We reviewed the literature and found that exons 2, 8, and 9 (11.4% of the sequence of FRMD7 mRNA) represent the majority (55.3%) of the reported FRMD7 mutations. In summary, we identified a novel mutation in FRMD7, showed its molecular consequence, and revealed the mutation-rich exons of the FRMD7 gene. Collectively, this provides molecular insights for future CN clinical genetic diagnosis and treatment.

Citing Articles

X-linked FRMD7 gene mutation in idiopathic congenital nystagmus and its role in eye movement: A case report and literature review.

Liu F, Wang M, Liao M, Liu L, Jiang X Front Ophthalmol (Lausanne). 2024; 2:1080869.

PMID: 38983508 PMC: 11182149. DOI: 10.3389/fopht.2022.1080869.

Truncated FRMD7 proteins in congenital Nystagmus: novel frameshift mutations and proteasomal pathway implications.

Su Y, Zhang J, Gao J, Ding G, Jiang H, Liu Y BMC Med Genomics. 2024; 17(1):36.

PMID: 38279119 PMC: 10811807. DOI: 10.1186/s12920-024-01817-7.

Gene Alterations in a Pakistani Family Associated with Congenital Idiopathic Nystagmus.

Arshad M, Shabbir M, Asif S, Shahzad M, Leydier L, Rai S Genes (Basel). 2023; 14(2).

PMID: 36833273 PMC: 9957179. DOI: 10.3390/genes14020346.

Correlations of FRMD7 gene mutations with ocular oscillations.

Huang L, Zhou Y, Chen W, Lin P, Xie Y, He K Sci Rep. 2022; 12(1):9914.

PMID: 35705619 PMC: 9200781. DOI: 10.1038/s41598-022-14144-7.

Next-generation sequencing identifies a novel frameshift variant in FRMD7 in a Chinese family with idiopathic infantile nystagmus.

Wang F, Guan H, Liu W, Zhao G, Liu S J Clin Lab Anal. 2019; 34(1):e23012.

PMID: 31495972 PMC: 6977136. DOI: 10.1002/jcla.23012.

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