Displaying all 4 publications

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  1. Fukunaga I, Shiga T, Chen C, Oe Y, Danzaki K, Ohta S, et al.
    Stem Cell Res, 2020 03;43:101674.
    PMID: 31926383 DOI: 10.1016/j.scr.2019.101674
    The gap junction beta-2 (GJB2) gene is the most common genetic cause of hereditary deafness worldwide. Especially, V37I mutation in GJB2 is most prevalent in Southeast Asia including Thailand, Malaysia, and Indonesia. Furthermore, it is the second most prevalent cause in Japan and China, and exhibits an audiometric phenotype of mild-to-moderate hearing loss. In this study, we generated induced pluripotent stem cells (iPSC) from peripheral blood mononuclear cells (PBMCs) of patient with homozygous V37I mutation. This iPSC line will be a powerful tool for investigating the pathogenesis and for developing a treatment for GJB2-related hearing loss.
    Matched MeSH terms: Hearing Loss/genetics*
  2. Zainal SA, Md Daud MK, Abd Rahman N, Zainuddin Z, Alwi Z
    Int J Pediatr Otorhinolaryngol, 2012 Aug;76(8):1175-9.
    PMID: 22613756 DOI: 10.1016/j.ijporl.2012.04.027
    To identify the mutations in the GJB2 gene and to determine its association with non-syndromic hearing loss in Malays.
    Matched MeSH terms: Hearing Loss/genetics*
  3. Farah WI, Aminuddin BS, Ruszymah BH
    Malays J Pathol, 2006 Jun;28(1):23-33.
    PMID: 17694956 MyJurnal
    Hearing loss is a common sensory deficit in humans. The hearing loss may be conductive, sensorineural, or mixed, syndromic or nonsyndromic, prelingual or postlingual. Due to the complexity of the hearing mechanism, it is not surprising that several hundred genes might be involved in causing hereditary hearing loss. There are at least 82 chromosomal loci that have been identified so far which are associated with the most common type of deafness--non-syndromic deafness. However, there are still many more which remained to be discovered. Here, we report the mapping of a locus for autosomal recessive, non-syndromic deafness in a family in Malaysia. The investigated family (AC) consists of three generations--parents who are deceased, nine affected and seven unaffected children and grandchildren. The deafness was deduced to be inherited in an autosomal recessive manner with 70% penetrance. Recombination frequencies were assumed to be equal for both males and females. Using two-point lod score analysis (MLINK), a maximum lod score of 2.48 at 0% recombinant (Z = 2.48, theta = 0%) was obtained for the interval D14S63-D14S74. The haplotype analysis defined a 14.38 centiMorgan critical region around marker D14S258 on chromosome 14q23.2-q24.3. There are 16 candidate genes identified with positive expression in human cochlear and each has great potential of being the deaf gene responsible in causing non-syndromic hereditary hearing loss in this particular family. Hopefully, by understanding the role of genetics in deafness, early interventional strategies can be undertaken to improve the life of the deaf community.
    Matched MeSH terms: Hearing Loss/genetics*
  4. Aishah ZS, Khairi MD, Normastura AR, Zafarina Z, Zilfalil BA
    J Laryngol Otol, 2008 Dec;122(12):1284-8.
    PMID: 18353197 DOI: 10.1017/S0022215108002041
    To determine the frequency and type of gap junction protein beta-2 gene mutations in Malay patients with autosomal recessive, non-syndromic hearing loss.
    Matched MeSH terms: Hearing Loss/genetics*
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