A novel insertion-induced frameshift mutation of the SLC26A4 gene in a Korean family with Pendred syndrome

Gene ◽  
2012 ◽  
Vol 508 (1) ◽  
pp. 135-139 ◽  
Author(s):  
Borum Sagong ◽  
Jun Ho Seok ◽  
Tae-Jun Kwon ◽  
Un-Kyung Kim ◽  
Sang-Heun Lee ◽  
...  
Keyword(s):  
Frameshift Mutation ◽  
Pendred Syndrome ◽  
Korean Family ◽  
Slc26a4 Gene

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 Phenotypic Diversity of Cardiomyopathy Caused by an MYBPC3 Frameshift Mutation in a Korean Family: A Case Report

Medicina ◽  
2021 ◽  
Vol 57 (3) ◽  
pp. 281
Author(s):  
Joonhong Park ◽  
Jong-Min Lee ◽  
Jung Sun Cho
Keyword(s):  
Frameshift Mutation ◽  
Phenotypic Diversity ◽  
Restrictive Cardiomyopathy ◽  
Term Treatment ◽  
Left Ventricular ◽  
Exertional Dyspnea ◽  
Korean Family ◽  
Inherited Cardiomyopathy ◽  
Long Term Treatment ◽  
Septal Hypertrophy

Restrictive cardiomyopathy (RCM) is one of the rarest cardiac disorders, with a very poor prognosis, and heart transplantation is the only long-term treatment of choice. We reported that a Korean family presented different cardiomyopathies, such as idiopathic RCM and hypertrophic cardiomyopathy (HCM), caused by the same MYBPC3 mutation in different individuals. A 74-year-old male was admitted for the evaluation of exertional dyspnea, palpitations, and pitting edema in both legs for several months. Transthoracic echocardiography (TTE) showed RCM with biatrial enlargement and pericardial effusion. Cardiac magnetic resonance (CMR) images revealed normal left ventricular chamber size, borderline diffuse left ventricular hypertrophy and very large atria. In contrast to the proband, CMR images showed asymmetric septal hypertrophy of the left ventricle, consistent with a diagnosis of HCM in the proband’s two daughters. Of the five heterozygous variants identified as candidate causes of inherited cardiomyopathy by whole exome sequencing in the proband, Sanger sequencing confirmed the presence of a heterozygous frameshift mutation (NM_000256.3:c.3313_3314insGG; p.Ala1105Glyfs*85) in MYBPC3 in the proband and his affected daughters, but not in his unaffected granddaughter. There is clinical and genetic overlap of HCM with restrictive physiology and RCM, especially when HCM is combined with severe myocardial fibrosis. Family screening with genetic testing and CMR imaging could be excellent tools for the evaluation of idiopathic RCM.

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