Genotype and Phenotype Spectrum of FRMD7-Associated Infantile Nystagmus Syndrome

Investigative Ophthalmology & Visual Science
Jae-Hwan ChoiKwang-Dong Choi

Abstract

We investigate the genotype and phenotype spectrum of FRMD7-associated infantile nystagmus syndrome in Korean probands. A total of 37 patients with infantile nystagmus syndrome were recruited prospectively for genetic analysis. We performed polymerase chain reaction (PCR)-based direct sequencing and haplotype analysis for FRMD7. Detailed ophthalmic examinations and eye movement recordings were compared between FRMD7 and non-FRMD7 groups. In 13 (35%) of 37 patients, five different mutations of FRMD7 were detected: start codon mutation c.1A>G, splice site mutation c.162+6T>C, and three missense mutations (c.575A>C, c.722A>G, and c.875T>C). The latter mutation was identified in seven unrelated patients, and always was accompanied with two single nucleotide polymorphisms of exon 12 (rs6637934, rs5977623). Compared to non-FRMD7 groups, a cup-to-disc ratio was significantly decreased in FRMD7 groups (P < 0.001), and a disc-macula distance to disc diameter ratio markedly increased in the FRMD7 group (P = 0.015). Most patients in the FRMD7 group had at least two types of the nystagmus waveforms, and the most common type was unidirectional jerk nystagmus (75%), such as pure jerk and jerk with extended foveation, followed by pendular (25...Continue Reading

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Citations

May 24, 2020·Investigative Ophthalmology & Visual Science·Lei JiangJing Yu Liu
Feb 27, 2021·European Journal of Human Genetics : EJHG·Basu DawarMervyn G Thomas
Mar 19, 2021·Frontiers in Cell and Developmental Biology·Xiao-Fang WangHuan-Yun Yu
Jun 17, 2021·Ophthalmic Genetics·Jae-Hwan ChoiKwang-Dong Choi

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