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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
6
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pubmed:dateCreated |
2002-7-10
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pubmed:abstractText |
Human chromosome 11 harbors two Usher type I loci, USHIB and USHIC, which encode myosin VIIA and harmonin, respectively. The USHIC locus overlaps the reported critical interval for nonsyndromic deafness locus DFNB18. We found an IVS12+5G-->C mutation in the USHIC gene, which is associated with nonsyndromic recessive deafness ( DFNB18) segregating in the original family, S-11/12. No other disease-associated mutation was found in the other 27 exons or in the intron-exon boundaries, and the IVS12+5G-->C mutation was not present in 200 representative unaffected individuals ascertained from the same area of India. An exon-trapping assay with a construct harboring IVS12+5G-->C generated wildtype spliced mRNA having exons 11 and 12 and mRNA that skipped exon 12. We conclude that mutations of USHIC can cause both Usher syndrome type IC and nonsyndromic recessive deafness DFNB18.
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pubmed:grant |
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Jun
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pubmed:issn |
0340-6717
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pubmed:author |
pubmed-author:AhmedZubair MZM,
pubmed-author:BokhariSiroshS,
pubmed-author:DeshmukhDilipD,
pubmed-author:FriedmanThomas BTB,
pubmed-author:GhoshManjuM,
pubmed-author:GriffithAndrew JAJ,
pubmed-author:MakishimaTomokoT,
pubmed-author:MenonPuthezhath S NPS,
pubmed-author:RiazuddinSaimaS,
pubmed-author:RiazuddinSheikhS,
pubmed-author:SmithTenesha NTN,
pubmed-author:WilcoxEdward RER
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pubmed:issnType |
Print
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pubmed:volume |
110
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
527-31
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pubmed:dateRevised |
2009-11-19
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pubmed:meshHeading |
pubmed-meshheading:12107438-Adaptor Proteins, Signal Transducing,
pubmed-meshheading:12107438-Adolescent,
pubmed-meshheading:12107438-Adult,
pubmed-meshheading:12107438-Alleles,
pubmed-meshheading:12107438-Alternative Splicing,
pubmed-meshheading:12107438-Animals,
pubmed-meshheading:12107438-Base Sequence,
pubmed-meshheading:12107438-COS Cells,
pubmed-meshheading:12107438-Carrier Proteins,
pubmed-meshheading:12107438-Chromosomes, Human, Pair 11,
pubmed-meshheading:12107438-DNA,
pubmed-meshheading:12107438-DNA Mutational Analysis,
pubmed-meshheading:12107438-Deafness,
pubmed-meshheading:12107438-Dyneins,
pubmed-meshheading:12107438-Female,
pubmed-meshheading:12107438-Genes, Recessive,
pubmed-meshheading:12107438-Humans,
pubmed-meshheading:12107438-Male,
pubmed-meshheading:12107438-Mutation,
pubmed-meshheading:12107438-Myosins,
pubmed-meshheading:12107438-Pedigree,
pubmed-meshheading:12107438-Retinitis Pigmentosa,
pubmed-meshheading:12107438-Syndrome,
pubmed-meshheading:12107438-Transfection,
pubmed-meshheading:12107438-Vestibular Diseases
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pubmed:year |
2002
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pubmed:articleTitle |
Nonsyndromic recessive deafness DFNB18 and Usher syndrome type IC are allelic mutations of USHIC.
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pubmed:affiliation |
Section of Human Genetics, Laboratory of Molecular Genetics, National Institute of Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD 20850, USA.
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pubmed:publicationType |
Journal Article,
Comparative Study,
Research Support, U.S. Gov't, P.H.S.,
Research Support, Non-U.S. Gov't
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