Nonsyndromic recessive deafness DFNB18 and usher syndrome type IC are allelic mutations of USHIC

Zubair M. Ahmed; Tenesha N. Smith; Saima Riazuddin; Tomoko Makishima; Manju Ghosh; Sirosh Bokhari; Puthezhath S.N. Menon; Dilip Deshmukh; Andrew J. Griffith; Sheikh Riazuddin; Thomas B. Friedman; Edward R. Wilcox

doi:10.1007/s00439-002-0732-4

Nonsyndromic recessive deafness DFNB18 and usher syndrome type IC are allelic mutations of USHIC

Zubair M. Ahmed, Tenesha N. Smith, Saima Riazuddin, Tomoko Makishima, Manju Ghosh, Sirosh Bokhari, Puthezhath S.N. Menon, Dilip Deshmukh, Andrew J. Griffith, Sheikh Riazuddin, Thomas B. Friedman, Edward R. Wilcox

Research output: Contribution to journal › Article › peer-review

111 Scopus citations

Abstract

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 and 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.

Original language	English (US)
Pages (from-to)	527-531
Number of pages	5
Journal	Human genetics
Volume	110
Issue number	6
DOIs	https://doi.org/10.1007/s00439-002-0732-4
State	Published - Jun 2002
Externally published	Yes

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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@article{345bc7d40a264d658adeee60de7b65b7,

title = "Nonsyndromic recessive deafness DFNB18 and usher syndrome type IC are allelic mutations of USHIC",

abstract = "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 and 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.",

author = "Ahmed, {Zubair M.} and Smith, {Tenesha N.} and Saima Riazuddin and Tomoko Makishima and Manju Ghosh and Sirosh Bokhari and Menon, {Puthezhath S.N.} and Dilip Deshmukh and Griffith, {Andrew J.} and Sheikh Riazuddin and Friedman, {Thomas B.} and Wilcox, {Edward R.}",

note = "Funding Information: Acknowledgements We thank the participants of this study, which is supported by the National Institute on Deafness and Other Communication Disorders, Intramural Research project Z01DC00035. The Atomic Energy Commission supported part of this study in Pakistan. We also thank Barbara Ploplis, Shaheen Khan, Robert Morell, Dennis Drayna, and Susan Sullivan.",

year = "2002",

month = jun,

doi = "10.1007/s00439-002-0732-4",

language = "English (US)",

volume = "110",

pages = "527--531",

journal = "Human genetics",

issn = "0340-6717",

publisher = "Springer Verlag",

number = "6",

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T1 - Nonsyndromic recessive deafness DFNB18 and usher syndrome type IC are allelic mutations of USHIC

AU - Ahmed, Zubair M.

AU - Smith, Tenesha N.

AU - Riazuddin, Saima

AU - Makishima, Tomoko

AU - Ghosh, Manju

AU - Bokhari, Sirosh

AU - Menon, Puthezhath S.N.

AU - Deshmukh, Dilip

AU - Griffith, Andrew J.

AU - Riazuddin, Sheikh

AU - Friedman, Thomas B.

AU - Wilcox, Edward R.

N1 - Funding Information: Acknowledgements We thank the participants of this study, which is supported by the National Institute on Deafness and Other Communication Disorders, Intramural Research project Z01DC00035. The Atomic Energy Commission supported part of this study in Pakistan. We also thank Barbara Ploplis, Shaheen Khan, Robert Morell, Dennis Drayna, and Susan Sullivan.

PY - 2002/6

Y1 - 2002/6

N2 - 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 and 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.

AB - 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 and 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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JO - Human genetics

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ER -

Nonsyndromic recessive deafness DFNB18 and usher syndrome type IC are allelic mutations of USHIC

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