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

Endocrine ◽  
2006 ◽  
Vol 30 (2) ◽  
pp. 237-244 ◽  
Author(s):  
Mi Ae Cho ◽  
Su Jin Jeong ◽  
Sang-Mi Eom ◽  
Hyun-Yung Park ◽  
Young Joo Lee ◽  
...  
Keyword(s):  
Pendred Syndrome ◽  
Korean Patients ◽  
Slc26a4 Gene

scholarly journals Different Rates of the SLC26A4-Related Hearing Loss in Two Indigenous Peoples of Southern Siberia (Russia)

Diagnostics ◽  
2021 ◽  
Vol 11 (12) ◽  
pp. 2378
Author(s):  
Valeriia Yu. Danilchenko ◽  
Marina V. Zytsar ◽  
Ekaterina A. Maslova ◽  
Marita S. Bady-Khoo ◽  
Nikolay A. Barashkov ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Genetic Diagnosis ◽  
Unknown Etiology ◽  
Pendred Syndrome ◽  
Genetic Causes ◽  
Asian Populations ◽  
Slc26a4 Gene ◽  
Medical Genetic Services ◽  
First Time ◽  
Local Healthcare

Hereditary hearing loss (HL) is known to be highly locus/allelic heterogeneous, and the prevalence of different HL forms significantly varies among populations worldwide. Investigation of region-specific landscapes of hereditary HL is important for local healthcare and medical genetic services. Mutations in the SLC26A4 gene leading to nonsyndromic recessive deafness (DFNB4) and Pendred syndrome are common genetic causes of hereditary HL, at least in some Asian populations. We present for the first time the results of a thorough analysis of the SLC26A4 gene by Sanger sequencing in the large cohorts of patients with HL of unknown etiology belonging to two neighboring indigenous Turkic-speaking Siberian peoples (Tuvinians and Altaians). A definite genetic diagnosis based on the presence of biallelic SLC26A4 mutations was established for 28.2% (62/220) of all enrolled Tuvinian patients vs. 4.3% (4/93) of Altaian patients. The rate of the SLC26A4-related HL in Tuvinian patients appeared to be one of the highest among populations worldwide. The SLC26A4 mutational spectrum was characterized by the presence of Asian-specific mutations c.919-2A>G and c.2027T>A (p.Leu676Gln), predominantly found in Tuvinian patients, and c.2168A>G (p.His723Arg), which was only detected in Altaian patients. In addition, a novel pathogenic variant c.1545T>G (p.Phe515Leu) was found with high frequency in Tuvinian patients. Overall, based on the findings of this study and our previous research, we were able to uncover the genetic causes of HL in 50.5% of Tuvinian patients and 34.5% of Altaian patients.

Analysis of the SLC26A4 gene in patients with Pendred syndrome in Taiwan

Metabolism ◽  
2007 ◽  
Vol 56 (9) ◽  
pp. 1279-1284 ◽  
Author(s):  
Chien-Chung Lai ◽  
Chih-Yang Chiu ◽  
An-Suey Shiao ◽  
Yi-Chu Tso ◽  
Yi-Chi Wu ◽  
...  
Keyword(s):  
Pendred Syndrome ◽  
Slc26a4 Gene

scholarly journals Pendred Syndrome, or Not Pendred Syndrome? That Is the Question

Genes ◽  
2021 ◽  
Vol 12 (10) ◽  
pp. 1569
Author(s):  
Paola Tesolin ◽  
Sofia Fiorino ◽  
Stefania Lenarduzzi ◽  
Elisa Rubinato ◽  
Elisabetta Cattaruzzi ◽  
...  
Keyword(s):  
Major Gene ◽  
Pathogenic Mutation ◽  
Protein Stabilization ◽  
Compound Heterozygous ◽  
Pendred Syndrome ◽  
Slc26a4 Gene ◽  
Whole Exome ◽  
Ear Malformations ◽  
Multiplex Ligation Probe Amplification ◽  
Syndromic Hearing Loss

Pendred syndrome (PDS) is the most common form of syndromic Hearing Loss (HL), characterized by sensorineural HL, inner ear malformations, and goiter, with or without hypothyroidism. SLC26A4 is the major gene involved, even though ~50% of the patients carry only one pathogenic mutation. This study aims to define the molecular diagnosis for a cohort of 24 suspected-PDS patients characterized by a deep radiological and audiological evaluation. Whole-Exome Sequencing (WES), the analysis of twelve variants upstream of SLC26A4, constituting the “CEVA haplotype” and Multiplex Ligation Probe Amplification (MLPA) searching for deletions/duplications in SLC26A4 gene have been carried out. In five patients (20.8%) homozygous/compound heterozygous SLC26A4 mutations, or pathogenic mutation in trans with the CEVA haplotype have been identified, while five subjects (20.8%) resulted heterozygous for a single variant. In silico protein modeling supported the pathogenicity of the detected variants, suggesting an effect on the protein stabilization/function. Interestingly, we identified a genotype-phenotype correlation among those patients carrying SLC26A4 mutations, whose audiograms presented a characteristic slope at the medium and high frequencies, providing new insights into PDS. Finally, an interesting homozygous variant in MYO5C has been identified in one patient negative to SLC26A4 gene, suggesting the identification of a new HL candidate gene.

Novel splice-site mutation c.1615-2A>G (IVS14-2A>G) in the SLC26A4 gene causing Pendred syndrome in a consanguineous Portuguese family

2011 ◽  
Vol 155 (4) ◽  
pp. 924-927 ◽  
Author(s):  
Helena Simões-Teixeira ◽  
Tiago D. Matos ◽  
Marta Canas Marques ◽  
Óscar Dias ◽  
Mário Andrea ◽  
...  
Keyword(s):  
Splice Site ◽  
Splice Site Mutation ◽  
Pendred Syndrome ◽  
Site Mutation ◽  
Slc26a4 Gene
Sign in / Sign up

Export Citation Format

Share Document