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Clinical evaluation of DFN3 patients with deletions in the POU3F4 locus and detection of carrier female using MLPA.

Authors
 MH Song  ;  HK Lee  ;  JY Choi  ;  S Kim  ;  J Bok  ;  U-K Kim 
Citation
 Clinical Genetics, Vol.78(6) : 524-532, 2010 
Journal Title
 Clinical Genetics 
ISSN
 0009-9163 
Issue Date
2010
Abstract
X-linked deafness type 3 (DFN3), the most prevalent X-linked form of hereditary deafness, is caused by mutations of the POU3F4 locus in the Xq21 region. We evaluated two Korean families showing typical characteristics of DFN3, such as congenital hearing loss and pathognomonic inner ear anomalies. Genetic analysis of these families did not reveal any mutations in the POU3F4 coding sequence. Instead, one family carried a genomic deletion upstream of POU3F4 gene, where the regulatory element is predicted to reside, and the other family possessed a deletion of almost the entire Xq21 region. The lack of mutation in the POU3F4 coding sequence makes the detection of carrier females using conventional sequencing methods difficult. By applying the multiplex ligation-dependent probe amplification (MLPA) method, we successfully determined the carrier status of female members in these families, demonstrating that MLPA is a rapid and accurate way to detect POU3F4 deletions in sporadic undiagnosed carriers of DNF3.
Full Text
http://onlinelibrary.wiley.com/doi/10.1111/j.1399-0004.2010.01426.x/abstract
DOI
10.1111/j.1399-0004.2010.01426.x
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Otorhinolaryngology (이비인후과학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Anatomy (해부학교실) > 1. Journal Papers
Yonsei Authors
복진웅(Bok, Jin Woong) ORCID logo https://orcid.org/0000-0003-1958-1872
송미현(Song, Mee Hyun)
최재영(Choi, Jae Young) ORCID logo https://orcid.org/0000-0001-9493-3458
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URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/102265
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