G2Cdb::Human Disease report

Disease id
D00000223
Name
Hearing loss (hereditary progressive)
Nervous system disease
yes

Genes (1)

Gene Name/Description Mutations Found Literature Mutations Type Genetic association?
G00002443 SERPINA3
serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3
Y (10662538) No mutation found (N) ?

References

  • A new locus for late-onset, progressive, hereditary hearing loss DFNA20 maps to 17q25.

    Morell RJ, Friderici KH, Wei S, Elfenbein JL, Friedman TB and Fisher RA

    Laboratory of Molecular Genetics, NIDCD, NIH, Rockville, Maryland 20850, USA.

    We report the localization of DFNA20, a gene causing dominant, nonsyndromic, progressive hearing loss in a three-generation Midwestern family, to chromosome 17q25. Affected family members show a bilateral, sloping, progressive, sensorineural hearing loss, first evident at 6000 and 8000 Hz, that can be identified in some family members in the early teens and is clearly evident by the early twenties. As age increases, the degree of hearing loss increases with threshold shifts seen at all frequencies. Linkage to known hereditary hearing loss loci was excluded. A genome-wide screen detected positive linkage to D17S784 (LOD(Z) = 6.62; θ = 0). Haplotype analysis refines the DFNA20 critical region to 12 cM between D17S1806 and D17S668. Radiation hybrid mapping with Stanford G3 and TNG panels was used to evaluate the genes ACTG1, GRIN2C, FKHL13, P4HB, SPARC, and ARHGDIA as candidates for DFNA20.

    Funded by: NIDCD NIH HHS: Z01DC00035-02, Z01DC00039-02

    Genomics 2000;63;1;1-6

Literature (1)

Pubmed - human_disease

  • A new locus for late-onset, progressive, hereditary hearing loss DFNA20 maps to 17q25.

    Morell RJ, Friderici KH, Wei S, Elfenbein JL, Friedman TB and Fisher RA

    Laboratory of Molecular Genetics, NIDCD, NIH, Rockville, Maryland 20850, USA.

    We report the localization of DFNA20, a gene causing dominant, nonsyndromic, progressive hearing loss in a three-generation Midwestern family, to chromosome 17q25. Affected family members show a bilateral, sloping, progressive, sensorineural hearing loss, first evident at 6000 and 8000 Hz, that can be identified in some family members in the early teens and is clearly evident by the early twenties. As age increases, the degree of hearing loss increases with threshold shifts seen at all frequencies. Linkage to known hereditary hearing loss loci was excluded. A genome-wide screen detected positive linkage to D17S784 (LOD(Z) = 6.62; θ = 0). Haplotype analysis refines the DFNA20 critical region to 12 cM between D17S1806 and D17S668. Radiation hybrid mapping with Stanford G3 and TNG panels was used to evaluate the genes ACTG1, GRIN2C, FKHL13, P4HB, SPARC, and ARHGDIA as candidates for DFNA20.

    Funded by: NIDCD NIH HHS: Z01DC00035-02, Z01DC00039-02

    Genomics 2000;63;1;1-6

© G2C 2014. The Genes to Cognition Programme received funding from The Wellcome Trust and the EU FP7 Framework Programmes:
EUROSPIN (FP7-HEALTH-241498), SynSys (FP7-HEALTH-242167) and GENCODYS (FP7-HEALTH-241995).

Cookies Policy | Terms and Conditions. This site is hosted by Edinburgh University and the Genes to Cognition Programme.