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

A novel dominant mutation in SIX1, affecting a highly conserved residue, result in only auditory defects in humans.

European journal of medical genetics - 1 Jan 2000

Mosrati Mohamed Ali, Hammami Boutheina, Rebeh Imen Ben, Ayadi Leila, Dhouib Leila, Ben Mahfoudh Khaireddine, Hakim Bochra, Charfeddine Ilhem, Mnif Jameleddine, Ghorbel Abdelmonem, Masmoudi Saber

Abstract excerpt

Branchio-oto-renal (BOR) and Branchio-otic (BO) syndromes are dominant disorders characterized by variable hearing impairment (HI) and branchial defects. BOR includes additional kidney malformations. BO/BOR syndromes are genetically heterogeneous and caused by mutations in EYA1 and SIX1 genes. Mutation in SIX1 is responsible also for DFNA23, a locus for non-syndromic HI. Strikingly, the severity of the phenotype...

Read the complete abstract on PubMed

Topics

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

Share to Branchio-Oto-Renal Syndrome
Share to Conserved Sequence

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Hearing Loss

Share to Homeodomain Proteins

Share to Kidney

Share to Protein Conformation

Share to Sequence Alignment

Source

Identifiers

PMID: 21700001
DOI: 10.1016/j.ejmg.2011.06.001

Genes

SIX1
EYA1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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

A novel dominant mutation in SIX1, affecting a highly conserved residue, result in only auditory defects in humans.PMID 21700001Read ↗

SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes.Semantic proximity Read ↗

Phenotypic and molecular basis of SIX1 variants linked to non-syndromic deafness and atypical branchio-otic syndrome in South Korea.Semantic proximity Read ↗

SIX1 mutation screening in 247 branchio-oto-renal syndrome families: a recurrent missense mutation associated with BOR.Semantic proximity Read ↗

Branchio-Oto-Renal Syndrome (BOR) associated with focal glomerulosclerosis in a patient with a novel EYA1 splice site mutation.Semantic proximity Read ↗

Six1 proteins with human branchio-oto-renal mutations differentially affect cranial gene expression and otic development.Semantic proximity Read ↗

Novel EYA1 variants causing Branchio-oto-renal syndrome.Semantic proximity Read ↗

Genetic and Phenotypic Variability in Chinese Patients With Branchio-Oto-Renal or Branchio-Oto SyndromeSemantic proximity Read ↗

Mutation screening of the EYA1, SIX1, and SIX5 genes in a large cohort of patients harboring branchio-oto-renal syndrome calls into question the pathogenic role of SIX5 mutationsSemantic proximity Read ↗

Branchio-oto-renal syndrome.Semantic proximity Read ↗

Clustering of mutations responsible for branchio-oto-renal (BOR) syndrome in the eyes absent homologous region (eyaHR) of EYA1Semantic proximity Read ↗

Using Xenopus to discover new candidate genes involved in BOR and other congenital hearing loss syndromes.Semantic proximity Read ↗

A novel splice site mutation in the EYA1 gene in a Korean family with branchio-oto (BO) syndrome.Semantic proximity Read ↗

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