Detection of somatic and germline mosaicism for the LAMP2 gene mutation c.808dupG in a Chinese family with Danon disease

Gene ◽  
2012 ◽  
Vol 507 (2) ◽  
pp. 174-176 ◽  
Author(s):  
Xiao-Ling Chen ◽  
Yan Zhao ◽  
Hai-Ping Ke ◽  
Wen-Ting Liu ◽  
Zhen-Fang Du ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Chinese Family ◽  
Germline Mosaicism ◽  
Danon Disease ◽  
Lamp2 Gene

scholarly journals Psychiatric and cognitive characteristics of individuals with Danon disease (LAMP2 gene mutation)

2017 ◽  
Vol 173 (9) ◽  
pp. 2461-2466 ◽  
Author(s):  
Maya Yardeni ◽  
Omri Weisman ◽  
Hanna Mandel ◽  
Ronnie Weinberger ◽  
Giovanni Quarta ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Danon Disease ◽  
Cognitive Characteristics ◽  
Lamp2 Gene

Danon Disease: Clinical Presentation and Diagnostic Workup in a Case of a Male Patient with a Novel Mutation in the LAMP2 Gene

2016 ◽  
Vol 47 (S 01) ◽  
Author(s):  
A. Dieckmann ◽  
F. Majer ◽  
H. Hulkova ◽  
M. Farr ◽  
T. Kalina ◽  
...  
Keyword(s):  
Male Patient ◽  
Clinical Presentation ◽  
Novel Mutation ◽  
Diagnostic Workup ◽  
Danon Disease ◽  
Lamp2 Gene

Report of Chinese family with severe dermatitis, multiple allergies and metabolic wasting syndrome caused by novel homozygous desmoglein-1 gene mutation

2016 ◽  
Vol 43 (10) ◽  
pp. 1201-1204 ◽  
Author(s):  
Ruhong Cheng ◽  
Ming Yan ◽  
Cheng Ni ◽  
Jia Zhang ◽  
Ming Li ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Chinese Family ◽  
Wasting Syndrome

PHKG2 mutation spectrum in glycogen storage disease type IXc: a case report and review of the literature

2018 ◽  
Vol 31 (3) ◽  
pp. 331-338 ◽  
Author(s):  
Chunyun Li ◽  
Lihua Huang ◽  
Lang Tian ◽  
Jia Chen ◽  
Shentang Li ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Glycogen Storage Disease ◽  
Storage Disease ◽  
Novel Mutation ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type ◽  
Mutation Spectrum ◽  
Chinese Family ◽  
Phosphorylase Kinase

AbstractBackground:PHKG2gene mutation can lead to liver phosphorylase kinase (PhK) deficiency, which is related to glycogen storage disease type IX (GSD IX). GSD IXc due toPHKG2mutation is the second most common GSD IX.Methods:We identified a novel mutation (c.553C>T, p.Arg185X) inPHKG2in a Chinese family and verified it by next-generation and Sanger sequencing. The mutation spectrum of thePHKG2gene was summarized based on 25 GSD IXc patients withPHKG2mutations.Results:We found that missense mutation (39%) was the most common type of mutation, followed by nonsense mutation (23%). Mutations were more prevalent in Asian (12/25) and European (9/25) populations than in populations from elsewhere. The exons had more sites of mutation than the introns, and exons 3 and 6 were the most frequent sites of mutations.Conclusions:This study expands our knowledge of thePHKG2gene mutation spectrum, providing a molecular basis for GSD IXc.

scholarly journals A novel COL4A1 gene mutation results in autosomal dominant non-syndromic congenital cataract in a Chinese family

2014 ◽  
Vol 15 (1) ◽  
Author(s):  
Xin-Yi Xia ◽  
Na Li ◽  
Xiang Cao ◽  
Qiu-Yue Wu ◽  
Tian-Fu Li ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Congenital Cataract ◽  
Autosomal Dominant ◽  
Chinese Family

scholarly journals Identification of a VHL gene mutation in a Chinese family with Von Hippel‑Lindau syndrome

2018 ◽  
Author(s):  
Zhengwen He ◽  
Lu Xia ◽  
Zhiyong Deng ◽  
Aojie Lian ◽  
Zhengmao Hu ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Chinese Family ◽  
Vhl Gene ◽  
Von Hippel Lindau ◽  
Von Hippel Lindau Syndrome

scholarly journals MELAS syndrome with mitochondrial tRNA(Leu(UUR)) gene mutation in a Chinese family.

1994 ◽  
Vol 57 (5) ◽  
pp. 586-589 ◽  
Author(s):  
C C Huang ◽  
R S Chen ◽  
C M Chen ◽  
H S Wang ◽  
C C Lee ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Chinese Family ◽  
Melas Syndrome ◽  
Mitochondrial Trna
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