A novel locus for autosomal dominant non-syndromic deafness (DFNA41) maps to chromosome 12q24-qter

Susan H Blanton, C. Y. Liang, M. W. Cai, A. Pandya, L. L. Du, B. Landa, S. Mummalanni, K. S. Li, Z. Y. Chen, X. N. Qin, Y. F. Liu, T. Balkany, W. E. Nance, Xue Z Liu

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Abstract

We have studied 36 subjects in a large multigenerational Chinese family that is segregating for an autosomal dominant adult onset form of progressive non-syndromic hearing loss. All affected subjects had bilateral sensorineural hearing loss involving all frequencies with some significant gender differences in initial presentation. After excluding linkage to known loci for non-syndromic deafness, we used the Center for Inherited Disease Research (CIDR) to test for 351 polymorphic markers distributed at approximately 10 cM intervals throughout the genome. Analysis of the resulting data provided evidence that the locus designated DFNA41 maps to a 15 cM region on chromosome 12q24.32-qter, proximal to the marker D12S1609. A maximum two point lod score of 6.56 at θ=0.0 was obtained for D12S343. This gene is distal to DFNA25, a previously identified locus for dominant adult onset hearing loss that maps to 12q21-24. Positional/functional candidate genes in this region include frizzled 10, epimorphin, RAN, and ZFOC1.

Original languageEnglish
Pages (from-to)567-570
Number of pages4
JournalJournal of Medical Genetics
Volume39
Issue number8
StatePublished - Aug 20 2002

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Deafness
Hearing Loss
Chromosomes
Bilateral Hearing Loss
Lod Score
Sensorineural Hearing Loss
Genes
Genome
Research
Autosomal Dominant 41 Deafness
Autosomal Dominant 25 Deafness

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

A novel locus for autosomal dominant non-syndromic deafness (DFNA41) maps to chromosome 12q24-qter. / Blanton, Susan H; Liang, C. Y.; Cai, M. W.; Pandya, A.; Du, L. L.; Landa, B.; Mummalanni, S.; Li, K. S.; Chen, Z. Y.; Qin, X. N.; Liu, Y. F.; Balkany, T.; Nance, W. E.; Liu, Xue Z.

In: Journal of Medical Genetics, Vol. 39, No. 8, 20.08.2002, p. 567-570.

Research output: Contribution to journalArticle

Blanton, SH, Liang, CY, Cai, MW, Pandya, A, Du, LL, Landa, B, Mummalanni, S, Li, KS, Chen, ZY, Qin, XN, Liu, YF, Balkany, T, Nance, WE & Liu, XZ 2002, 'A novel locus for autosomal dominant non-syndromic deafness (DFNA41) maps to chromosome 12q24-qter', Journal of Medical Genetics, vol. 39, no. 8, pp. 567-570.
Blanton, Susan H ; Liang, C. Y. ; Cai, M. W. ; Pandya, A. ; Du, L. L. ; Landa, B. ; Mummalanni, S. ; Li, K. S. ; Chen, Z. Y. ; Qin, X. N. ; Liu, Y. F. ; Balkany, T. ; Nance, W. E. ; Liu, Xue Z. / A novel locus for autosomal dominant non-syndromic deafness (DFNA41) maps to chromosome 12q24-qter. In: Journal of Medical Genetics. 2002 ; Vol. 39, No. 8. pp. 567-570.
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