Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Structural variations in a non-coding region at 1q32.1 are responsible for the NYS7 locus in two large families.

Human genetics - 1 Aug 2020

Sun Wenmin, Li Shiqiang, Jia Xiaoyun, Wang Panfeng, Hejtmancik J Fielding, Xiao Xueshan, Zhang Qingjiong

Abstract excerpt

Congenital motor nystagmus (CMN) is characterized by early-onset bilateral ocular oscillations without other ocular deficits. To date, mutations in only one gene have been identified to be responsible for CMN, i.e., FRMD7 for X-linked CMN. Four loci for autosomal dominant CMN, including NYS7 (OMIM 614826), have been mapped but the causative genes have yet to be identified. NYS7 was mapped to 1q32.1 based on...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Cytoskeletal Proteins
Share to Gene Deletion

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Diseases, X-Linked

Share to Genetic Linkage

Share to Genomic Structural Variation

Share to Membrane Proteins

Share to Nystagmus, Congenital

Share to Whole Genome Sequencing

Source

Open in PubMed Open full text

Identifiers

PMID: 32248360
DOI: 10.1007/s00439-020-02156-0
PMCID: PMC7406531

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Structural variations in a non-coding region at 1q32.1 are responsible for the NYS7 locus in two large families.PMID 32248360Read ↗

Identifcation of a novel mutation p.I240T in the FRMD7 gene in a family with congenital nystagmus.Semantic proximity Read ↗

Novel mutations of the FRMD7 gene in X-linked congenital motor nystagmus.Semantic proximity Read ↗

Genetic Landscape and Clinical Characterization of FRMD7-Related Infantile Nystagmus Based on Large In-House Datasets and Literature Review.Semantic proximity Read ↗

Novel mutations in FRMD7 in X-linked congenital nystagmus. Mutation in brief #963. Online.Semantic proximity Read ↗

Novel FRMD7 Mutations and Genomic Rearrangement Expand the Molecular Pathogenesis of X-Linked Idiopathic Infantile Nystagmus.Semantic proximity Read ↗

A novel mutation in FRMD7 causes X-linked idiopathic congenital nystagmus in a North Indian family.Semantic proximity Read ↗

Identification of novel pathogenic variants and novel gene-phenotype correlations in Mexican subjects with microphthalmia and/or anophthalmia by next-generation sequencing.Semantic proximity Read ↗

Identification and functional validation of a novel disease-causing variant in the noncoding region of NYX.Semantic proximity Read ↗

Novel intragenic FRMD7 deletion in a pedigree with congenital X-linked nystagmus.Semantic proximity Read ↗

Noncanonical Splice Site and Deep Intronic FRMD7 Variants Activate Cryptic Exons in X-linked Infantile Nystagmus.Semantic proximity Read ↗

A review of the molecular genetics of congenital Idiopathic Nystagmus (CIN).Semantic proximity Read ↗

Genotype and Phenotype Spectrum of FRMD7-Associated Infantile Nystagmus Syndrome.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.