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

Mutations of MYO6 are associated with recessive deafness, DFNB37.

American journal of human genetics - 1 May 2003

Ahmed Zubair M, Morell Robert J, Riazuddin Saima, Gropman Andrea, Shaukat Shahzad, Ahmad Mussaber M, Mohiddin Saidi A, Fananapazir Lameh, Caruso Rafael C, Husnain Tayyab, Khan Shaheen N, Riazuddin Sheikh, Griffith Andrew J, Friedman Thomas B, Wilcox Edward R

Abstract excerpt

Cosegregation of profound, congenital deafness with markers on chromosome 6q13 in three Pakistani families defines a new recessive deafness locus, DFNB37. Haplotype analyses reveal a 6-cM linkage region, flanked by markers D6S1282 and D6S1031, that includes the gene encoding unconventional myosin VI. In families with recessively inherited deafness, DFNB37, our sequence analyses of MYO6 reveal a frameshift...

Read the complete abstract on PubMed

Topics

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

Share to Amino Acid Substitution
Share to Chromosomes, Human, Pair 6

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Deafness

Share to Family

Share to Genes, Recessive

Share to Genetic Linkage

Share to Myosin Heavy Chains

Share to Pakistan

Source

Open in PubMed Open full text

Identifiers

PMID: 12687499
DOI: 10.1086/375122
PMCID: PMC1180285

Genes

MYO6

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutations of MYO6 are associated with recessive deafness, DFNB37.PMID 12687499Read ↗

MYO6, the human homologue of the gene responsible for deafness in Snell's waltzer mice, is mutated in autosomal dominant nonsyndromic hearing loss.Semantic proximity Read ↗

Research Progress of MYO6 Variant-Associated Hereditary Hearing Loss.Semantic proximity Read ↗

Targeted Next-Generation Sequencing Analysis Reveals a Novel Genetic Variant in MYO6 Gene in an Indian Family with Postlingual Nonsyndromic Hearing Loss.Semantic proximity Read ↗

A novel MYO6 splice site mutation causes autosomal dominant sensorineural hearing loss type DFNA22 with a favourable outcome after cochlear implantation.Semantic proximity Read ↗

Mapping of a novel autosomal recessive nonsyndromic deafness locus (DFNB46) to chromosome 18p11.32-p11.31.Semantic proximity Read ↗

High Prevalence of MYO6 Variants in an Austrian Patient Cohort With Autosomal Dominant Hereditary Hearing Loss.Semantic proximity Read ↗

Identification of Hearing Loss-Associated Variants of PTPRQ, MYO15A, and SERPINB6 in Pakistani Families.Semantic proximity Read ↗

Spectrum of MYO7A Mutations in an Indigenous South African Population Further Elucidates the Nonsyndromic Autosomal Recessive Phenotype of DFNB2 to Include Both Homozygous and Compound Heterozygous Mutations.Semantic proximity Read ↗

Prioritized sequencing of the second exon of MYO15A reveals a new mutation segregating in a Pakistani family with moderate to severe hearing loss.Semantic proximity Read ↗

Next-generation sequencing identifies three novel missense variants in ILDR1 and MYO6 genes in an Iranian family with hearing loss with review of the literature.Semantic proximity Read ↗

Addition of an affected family member to a previously ascertained autosomal recessive nonsyndromic hearing loss pedigree and systematic phenotype-genotype analysis of splice-site variants in MYO15A.Semantic proximity Read ↗

Identification of a novel MYO6 mutation associated with autosomal dominant non-syndromic hearing loss in a Chinese family by whole-exome sequencing.Semantic proximity Read ↗

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