The H723R Mutation in the PDS/SLC26A4 Gene Is Associated with Typical Pendred Syndrome in Korean Patients

Cho, Mi Ae; Jeong, Su Jin; Eom, Sang Mi; Park, Hyun Yung; Lee, Young Joo; Park, Se Eun; Park, So Young; Rhee, Yumie; Kang, Eun Soek; Ahn, Chul Woo; Soo, Bong; Lee, Mi Kyung; Kim, Kyung Rae; Lim, Sung Kil

doi:10.1385/endo:30:2:237

Cited by 5 publications

(4 citation statements)

References 29 publications

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“…In contrast, H723R, IVS7-2A>G, and IVS9+3A>G account for the majority of SLC26A4 mutations in East Asian populations. Combined with the results of Park et al (2004) and Cho et al (2006), our data indicate the H723R mutation accounts for approximately 40% of SLC26A4 mutations in Korea, which is similar to the 53% observed in Japanese patients [30,43]. Our observations confirm that H723R is the most frequently detected mutation in both Korean and Japanese populations, perhaps as a result of a common founder effect.…”

Section: Discussionsupporting

confidence: 89%

Molecular analysis of the GJB2, GJB6 and SLC26A4 genes in Korean deafness patients

Lee

Choi

Bae

et al. 2008

International Journal of Pediatric Otorhinolaryngology

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Objective-Mutations in the GJB2, GJB6 and SLC26A4 genes are a frequent cause of hearing loss in a number of populations. However, little is known about the genetic causes of hearing loss in the Korean population.Methods-We sequenced the GJB2 and GJB6 genes to examine the role of mutations in these genes in twenty-two hearing loss patients. We also sequenced the SLC26A4 gene in seven patients with inner ear malformations, including enlarged vestibular aqueduct (EVA) revealed by computer tomography.Results-Coding sequence mutations in GJB2 were identified in 13.6% of the patients screened. Two different mutations, 235delC and T86R were found in three unrelated patients. The 235delC was the most prevalent mutation with an allele frequency of 6.9% in our patient group. No mutations, including 342 kb deletion, were found in GJB6 gene. Three different variants of SLC26A4 were identified in the EVA patients, including one novel mutation. Four EVA patients carried two mutant alleles of SLC26A4, and at least one allele in all patients was the H723R mutation, which accounted for 75% of all mutant alleles.Conclusions-Our results suggest that GJB2 and SLC26A4 mutations together make up a major cause of congenital hearing loss in the Korean population. Further studies may be able to identify other common variants that account for a significant fraction of hearing loss in the Korean population.

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Section: Discussionsupporting

confidence: 89%

Molecular analysis of the GJB2, GJB6 and SLC26A4 genes in Korean deafness patients

Lee

Choi

Bae

et al. 2008

International Journal of Pediatric Otorhinolaryngology

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“…The SLC26A4 gene, which is associated with enlarged vestibular aquaducts (EVA), is also a common causative gene of HL. Park et al (2005) demonstrated that 20 (83%) out of 24 probands with SLC26A4 mutations had at least one of three recurrent mutations (p.H723R, IVS7-2A>G or IVS9+3A>G) (15,18,24,25). In addition, the mtDNA A1555G mutation has been identified as the most prevalent mitochondrial mutation associated with HL in the Korean population.…”

Section: Discussionmentioning

confidence: 99%

Application of allele-specific primer extension-based microarray for simultaneous multi-gene mutation screening in patients with non-syndromic hearing loss

Choi

Lee²,

Kim³

et al. 2010

Int J Mol Med

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Abstract. Congenital hearing loss (HL) is the most common sensory disorder in humans, affecting one in 1000 infants at birth. A high degree of genetic heterogeneity makes it difficult to screen for mutations in all known deafness genes in clinical applications. We have improved a genotyping microarray using the multiplex PCR-based allele-specific primer extension (ASPE) reaction and applied this method for the genetic diagnosis of congenital HL in Korea. Seven different mutations in the GJB2, SLC26A4 and mitochondrial 12S rRNA genes, which were identified on the basis of a previous study in a Korean population, were selected for the study. These genes were used to evaluate the accuracy of the microarray. The test for validation of the current version of HL genotyping micro-array was fully concordant with the results of DNA sequencing in which 51 subjects with non-syndromic HL were originally genotyped. Furthermore, the blind test of the genotyping microarray detected four different mutations in 10 out of 65 patients, and the accuracy of microarray was calculated as 98% (64/65). Therefore, our results suggest that this HL genotyping microarray will be useful in clinical applications for the genetic diagnosis of HL.

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“…It is encoded from PDS/SLC26A4 gene (GenBank Accesion # NC_000007), located on chromosome 7q21-31 and spans approximately 57 Kb, with 21 exons. Pendrin mutations are typically inherited as autosomal recessive traits (OMIM 274600) [20].…”

Section: Introductionmentioning

confidence: 99%

Genetic Alterations in Pendrin (SLC26A4) Gene in Adult Hypothyroid Patients

et al. 2017

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Current study was aimed to screen the gene in 127 nonautoimmune and noncongenital hypothyroid patients, who were under optimal iodine nutrition and devoid of any characteristics of Pendred syndrome from eastern part of Indian population. 8 single nucleotide variants/mutations were identified in heterozygous state in 20% patient population, which include 1 novel nonsynonymous (p.C18S), 1 novel intronic (g.942C>A), 3 known nonsynonymous (p.S23X, p.V239D, and p.I455F), and 3 known intronic (g.23034G>T, g.29641C>G, and g.33893T>C) variants. Only g.23034G>T was noted also in homozygous state in 2% patient population. However, Controls exhibited only the variations g.23034G>T and p.I455F. Therefore, present study reports for the first time that the observed novel variants in pendrin gene might be linked with autoimmune negative hypothyroidism, without any characteristics of Pendred syndrome and/or congenital hypothyroidism. While, all observed known variants/mutations were reported with either Pendred syndrome and/or congenital hypothyroidism earlier, but never with nonautoimmune adult hypothyroidism solely. Thereby, the absence of any features of Pendred syndrome and/or congenital hypothyroidism in patients with observed known nonsynonymous variants/mutations may be due to either heterozygous state of each variant or differential domain specific activity of ions trafficking in the respective organ. The analysis of amino acid change at least for p.C18S, p.S23X, and p.V239D in correlation with phenotypic characteristics of respective patients might assume a possible effect on protein structure and function. Altogether, we report for the first time that genetical variations in gene could play an important role in development of nonautoimmune adult hypothyroidism.

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The H723R Mutation in the PDS/SLC26A4 Gene Is Associated with Typical Pendred Syndrome in Korean Patients

Cited by 5 publications

References 29 publications

Molecular analysis of the GJB2, GJB6 and SLC26A4 genes in Korean deafness patients

Molecular analysis of the GJB2, GJB6 and SLC26A4 genes in Korean deafness patients

Application of allele-specific primer extension-based microarray for simultaneous multi-gene mutation screening in patients with non-syndromic hearing loss

Genetic Alterations in Pendrin (SLC26A4) Gene in Adult Hypothyroid Patients

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