Consanguineous nuclear families used to identify a new locus for recessive non-syndromic hearing loss on 14q
- Kunihiro Fukushima,
- Arabandi Ramesh,
- C. R.Srikumari Srisailapathy,
- Li Ni,
- Achih Chen,
- Marsha O'neill
- University of Iowa,
- University of Madras,
- University of Antwerp,
- Boys Town National Research Hospital,
- National Institutes of Health
Scholary Output:
Contribution to journal
Article
Peer-reviewAbstract
Hearing impairment is inherited most frequently as an autosomal recessive isolated clinical finding (non-syndromic hearing loss, NSHL). Extreme heterogeneity and phenotypic variability in the audiometric profile preclude pooling of affected families and severely hamper gene mapping by conventional linkage analysis. However, in instances of consanguinity, homozygosity mapping can be used to identify disease loci in small nuclear families. This report demonstrates the power of this technique by identifying a locus for recessive NSHL on 14q (DFNB4).
Publication Information
Output type
Scholary Output:
Contribution to journal
Article
Peer-reviewOriginal language
English (US)Pages from-to (Number of pages)
Pages 1643-1648 (6 pages)Journal (Volume, Issue Number)
Human Molecular Genetics (Volume 4, Issue 9)Publication milestones
- Published - 09/1995
Publication status
Published - 09/1995
ISSN
0964-6906Publication IDs
- Scopus: 0029086703
- PubMed: 8541854
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0.93
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1
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1
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Funding Details
This study was supported in part by the Rotary Club of Iowa City, Okayama and The International Rotary Foundation (K.F.), and a grant from the Simon and Louise Henderson Foundation (R.J.H.S.). We are grateful to the families from Madras, India, who made this research possible.
FundersFunding numbers
International Rotary Foundation
-Rotary Club of Iowa City
-Simon and Louise Henderson Foundation
-