A frameshift mutation in the ADAR gene in a Korean family with dyschromatosis symmetrica hereditaria

2014 ◽  
Vol 24 (6) ◽  
pp. 693-695
Author(s):  
Young Bok Lee ◽  
Seung Bok Lee ◽  
Su Jin Kim ◽  
Sae Mi Park ◽  
Hye Rim Ko ◽  
...  
Keyword(s):  
Frameshift Mutation ◽  
Korean Family ◽  
Dyschromatosis Symmetrica Hereditaria ◽  
Adar 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.

Two novel mutations and evidence for haploinsufficiency of the ADAR gene in dyschromatosis symmetrica hereditaria

2006 ◽  
Vol 154 (4) ◽  
pp. 636-642 ◽  
Author(s):  
Q. Liu ◽  
L. Jiang ◽  
W-L. Liu ◽  
X-J. Kang ◽  
Y. Ao ◽  
...  
Keyword(s):  
Novel Mutations ◽  
Dyschromatosis Symmetrica Hereditaria ◽  
Adar Gene

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

Somatic hMLH3 frameshift mutation in colorectal cancers with microsatellite instability

2001 ◽  
Vol 120 (5) ◽  
pp. A295-A295
Author(s):  
D CHANG ◽  
A GOEL ◽  
L RICCIARDIELLO ◽  
C ARNOLD ◽  
C BOLAND
Keyword(s):  
Microsatellite Instability ◽  
Frameshift Mutation ◽  
Colorectal Cancers
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