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X Liu - One of the best experts on this subject based on the ideXlab platform.

Pu Dai - One of the best experts on this subject based on the ideXlab platform.

Samuel Reyes - One of the best experts on this subject based on the ideXlab platform.

Shin-ichi Usami - One of the best experts on this subject based on the ideXlab platform.

  • Distribution and frequencies of PDS (SLC26A4) mutations in Pendred syndrome and nonsyndromic hearing loss associated with Enlarged Vestibular Aqueduct: a unique spectrum of mutations in Japanese
    European Journal of Human Genetics, 2003
    Co-Authors: Koji Tsukamoto, Satoko Abe, Hiroaki Suzuki, Daisuke Harada, Atsushi Namba, Shin-ichi Usami
    Abstract:

    Molecular diagnosis makes a substantial contribution to precise diagnosis, subclassification, prognosis, and selection of therapy. Mutations in the PDS (SLC26A4) gene are known to be responsible for both Pendred syndrome and nonsyndromic hearing loss associated with Enlarged Vestibular Aqueduct, and the molecular confirmation of the PDS gene has become important in the diagnosis of these conditions. In the present study, PDS mutation analysis confirmed that PDS mutations were present and significantly responsible in 90% of Pendred families, and in 78.1% of families with nonsyndromic hearing loss associated with Enlarged Vestibular Aqueduct. Furthermore, variable phenotypic expression by the same combination of mutations indicated that these two conditions are part of a continuous category of disease. Interestingly, the PDS mutation spectrum in Japanese, including the seven novel mutations revealed by this study, is very different from that found in Caucasians. Of the novel mutations detected, 53% were the H723R mutation, suggesting a possible founder effect. Ethnic background is therefore presumably important and should be noted when genetic testing is being performed. The PDS gene mutation spectrum in Japanese may be representative of those in Eastern Asian populations and its elucidation is expected to facilitate the molecular diagnosis of a variety of diseases.

  • Non-syndromic hearing loss associated with Enlarged Vestibular Aqueduct is caused by PDS mutations
    Human Genetics, 1999
    Co-Authors: Shin-ichi Usami, Satoko Abe, Michael D. Weston, Hideichi Shinkawa, Guy Van Camp, William J. Kimberling
    Abstract:

    Enlarged Vestibular Aqueduct (EVA), known as the most common form of inner ear abnormality, has recently been of particular genetic interest because this anomaly is inherited in a recessive manner. The locus for non-syndromic sensorineural hearing loss with EVA has been mapped to the same chromosomal region, 7q31, as the Pendred syndrome locus. In the present study, seven mutations in the PDS gene (PDS), the gene responsible for Pendred syndrome, have been found in families of non-syndromic sensorineural hearing loss with EVA. One family is homozygous, three families are compound heterozygotes, and two families are heterozygous but with no other mutation detected. The present results provide evidence that mutations in PDS cause both syndromic and non-syndromic hearing loss.

  • fluctuating sensorineural hearing loss associated with Enlarged Vestibular Aqueduct maps to 7q31 the region containing the pendred gene
    American Journal of Medical Genetics, 1999
    Co-Authors: Satoko Abe, Shin-ichi Usami, Hideichi Shinkawa, Denise M Hoover, Edward S Cohn, William J. Kimberling
    Abstract:

    The most common form of inner ear abnormality, Enlarged Vestibular Aqueduct (EVA), is of particular interest because it is associated with characteristic clinical findings, including fluctuating and sometimes progressive sensorineural hearing loss and disequilibrium symptoms. Although EVA has been reported to be inherited in a recessive manner, nothing else is known about the genetic basis of this hearing loss. Here we report on the localization of the gene responsible for sensorineural hearing loss associated with EVA to chromosomal region 7q31, with maximum multipoint LOD score of 3.647. The EVA candidate gene region lies in a 1.7-cM interval between the flanking markers D7S501 and D7S2425. Interestingly, this region overlaps the region containing the gene responsible for Pendred syndrome, called PDS, which was identified recently. However, the present subjects did not fulfill the criteria for Pendred syndrome. It is hypothesized that different mutations within the PDS gene may cause different phenotypes ranging from EVA to the Mondini deformity seen in Pendred syndrome.

Guojian Wang - One of the best experts on this subject based on the ideXlab platform.