ArticleJournal of molecular neuroscience : MN2019
A Disease-Causing FRMD7 Variant in a Chinese Family with Infantile Nystagmus.
Article in Journal of molecular neuroscience : MN, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
5 citing papers in PubMed, 26 citations in OpenAlex.
- Genetic Landscape and Clinical Characterization of FRMD7-Related Infantile Nystagmus Based on Large In-House Datasets and Literature Review.Investigative ophthalmology & visual science · 2026Review
- Surgical outcomes of a congenital nystagmus family with a missense mutation in the FRMD7 gene.Heliyon · 2024Article
- Truncated FRMD7 proteins in congenital Nystagmus: novel frameshift mutations and proteasomal pathway implications.BMC medical genomics · 2024Article
- Novel compound heterozygous variants in theFrontiers in cell and developmental biology · 2023Article
- Nystagmus-related FRMD7 gene influences the maturation and complexities of neuronal processes in human neurons.Brain and behavior · 2019Article
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Authors and funding
9 authors at 1 institution in 1 country.
Funding
Abstract
In this report, we described a large Han-Chinese family which presents with various phenotypes from unaffected to manifested nystagmus in females. Infantile nystagmus (IN) is characterized by bilateral, involuntary, and periodic eyeball oscillation, occurring at birth or within the first 6 months. The most common inheritance pattern of IN is an X-linked form with incomplete penetrance among females, and the FERM domain containing 7 gene (FRMD7) is a main disease-causing gene. A combination of exome sequencing and Sanger sequencing, as well as detailed clinical examinations were performed on the Chinese IN family. An FRMD7 c.47T>C (p.Phe16Ser) variant was proposed as the disease-causing variant. Incomplete penetrance was found in females with the FRMD7 c.47T>C variant, and hemizygous male affected subjects presented more severe manifestations compared to heterozygous female affected subjects. These findings could enhance genetic counseling and antenatal diagnosis of IN.
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