Nonsyndromic deafness DFNA1 associated with mutation of a human homolog of the Drosophila gene diaphanous.

  title={Nonsyndromic deafness DFNA1 associated with mutation of a human homolog of the Drosophila gene diaphanous.},
  author={Eric D. Lynch and M K Lee and J E Morrow and Piri L. Welcsh and P E Le{\'o}n and Mary-Claire King},
  volume={278 5341},
The gene responsible for autosomal dominant, fully penetrant, nonsyndromic sensorineural progressive hearing loss in a large Costa Rican kindred was previously localized to chromosome 5q31 and named DFNA1. Deafness in the family is associated with a protein-truncating mutation in a human homolog of the Drosophila gene diaphanous. The truncation is caused by a single nucleotide substitution in a splice donor, leading to a four-base pair insertion in messenger RNA and a frameshift. The diaphanous… 
Mutation in transcription factor POU4F3 associated with inherited progressive hearing loss in humans.
The molecular basis for autosomal dominant progressive nonsyndromic hearing loss in an Israeli Jewish family, Family H, has been determined and an 8-base pair deletion in the POU homeodomain of human POU4F3 was identified in Family H.
A novel type of myosin encoded by the mouse deafness gene shaker-2.
The use of a positional cloning approach is reported to show that the gene mutated in sh-2 mice encodes a novel type of unconventional myosin, which is a strong candidate for DFNB3.
A gene for fluctuating, progressive autosomal dominant nonsyndromic hearing loss, DFNA16, maps to chromosome 2q23-24.3.
This observation suggests that it may be possible to stabilize hearing through medical intervention, once the biophysiology of deafness due to DFNA16 is clarified, and especially intriguing is the localization of several voltage-gated sodium-channel genes to theDFNA16 interval.
Mutation of a transcription factor, TFCP2L3, causes progressive autosomal dominant hearing loss, DFNA28.
A large American family with an autosomal dominant form of progressive non-syndromic sensorineural hearing loss is ascertained, and a frameshift mutation resulting in a premature translation stop codon in exon 14 of the gene TFCP2L3 is identified.
Mutations in a novel cochlear gene cause DFNA9, a human nonsyndromic deafness with vestibular dysfunction
Three missense mutations in human COCH (previously described as Coch5b2), a novel cochlear gene, are reported in three unrelated kindreds with DFNA9, an autosomal dominant, nonsyndromic, progressive sensorineural hearing loss with vestibular pathology.
A Pro51Ser mutation in the COCH gene is associated with late onset autosomal dominant progressive sensorineural hearing loss with vestibular defects.
We analysed a Dutch family with autosomal dominant non-syndromic progressive sensorineural hearing loss and mapped the underlying gene defect by genetic linkage analysis to a 11.0 cM region
A novel missense variant in the DIAPH1 gene in a Korean family with autosomal dominant nonsyndromic hearing loss.
A novel variant, p.I530S (c.1589T > G), was identified in the DIAPH1 gene, and the mutation was located in the highly conserved coiled-coil domain of the DIA1 protein, where an amino acid substitution was predicted to change the domain structure.
Variable autoinhibition among deafness-associated variants of Diaphanous 1 (DIAPH1)
One of the earliest mapped human deafness genes, DIAPH1, encodes the formin DIAPH1. To date, at least three distinct mutations in the C-terminal domains and two additional mutations in the N-terminal
OSBPL2 encodes a protein of inner and outer hair cell stereocilia and is mutated in autosomal dominant hearing loss (DFNA67)
This study and the recent description of another frameshift mutation in a Chinese ADNSHL family identify OSBPL2 as a novel gene for progressive deafness.
Modifier controls severity of a novel dominant low-frequency MyosinVIIA (MYO7A) auditory mutation
Large pedigrees with monogenic non-syndromic hearing impairment have allowed genetic mapping of at least 80 chromosomal locations harbouring auditory-related deafness ( DFN ) loci with the identification of over 30 DFN genes.


The gene for an inherited form of deafness maps to chromosome 5q31.
The gene for deafness in this kindred is mapped to chromosome 5q31, between the markers IL9 and GRL, by linkage analysis involving 99 informative relatives, and the family traces its ancestry to an affected founder born in Costa Rica in 1754.
Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4
Findings indicate that POU3F4 mutations are a molecular cause of DFN3, and a candidate gene for this disorder, Brain 4, which encodes a transcription factor with a POU domain, maps to the same interval.
Mapping of DFN2 to Xq22.
A four generation family with this phenotype in which female carriers have a mild/moderate hearing loss affecting the high frequencies is described, and the mutant gene has been mapped to Xq22 using polymorphic microsatellite markers.
Defective myosin VIIA gene responsible for Usher syndrome type IB
Evidence is presented that a gene encoding myosin VIIA is responsible for USH1B and that USH IB appears as a primary cytoskeletal protein defect, which implicate the genes encoding other unconventional myosins and their interacting proteins as candidates for other genetic forms of Usher syndrome.
Connexin 26 mutations in hereditary non-syndromic sensorineural deafness
To the authors' knowledge, this is the first nonsyndromic sensorineural autosomal deafness susceptibility gene to be identified, which implicates Cx26 as an important component of the human cochlea.
Mutations in the myosin VIIA gene cause non-syndromic recessive deafness
The expression of MYO7A in the neuroepithelium suggests that it should be considered a candidate for non-syndromic deafness in the human population, and by screening families with non-Syndromal deafness from China, two families carrying Myo7A mutations are identified.
Genes responsible for human hereditary deafness: symphony of a thousand
  • C. Petit
  • Medicine, Biology
    Nature Genetics
  • 1996
Rapid progress is now being made in linkage analysis and molecular components specifically involved in the peripheral auditory process, which should allow completion of major pieces of the jigsaw for understanding the development and function of the ear.
Genetics of deafness
The mouse formin (Fmn) gene: genomic structure, novel exons, and genetic mapping.
To study the genomic organization of the Fmn locus, Fmn probes are used to isolate and characterize genomic clones spanning 500 kb and two novel exons are identified that are expressed in the developing embryonic limb bud as well as adult tissues such as brain and kidney.
Mitochondrial ribosomal RNA mutation associated with both antibiotic–induced and non–syndromic deafness
This study offers the first description of a mitochondrial rRNA mutation leading to disease, the first cases of non–syndromic deafness caused by a mitochondrial DNA mutation and the first molecular genetic study of antibiotic–induced ototoxicity.