scholarly journals Two novel mutations of the PAX6 gene causing different phenotype in a cohort of Chinese patients

Eye ◽  
2011 ◽  
Vol 25 (12) ◽  
pp. 1581-1589 ◽  
Author(s):  
X Zhang ◽  
Y Tong ◽  
W Xu ◽  
B Dong ◽  
H Yang ◽  
...  
Keyword(s):  
Chinese Patients ◽  
Pax6 Gene ◽  
Novel Mutations

Three novel mutations of theATP2A2gene in Chinese patients with Darier disease

2018 ◽  
Vol 60 (2) ◽  
Author(s):  
Qing Zhao ◽  
Fanghui Fu ◽  
Xi'an Fu ◽  
Zhenzhen Wang ◽  
Hong Liu ◽  
...  
Keyword(s):  
Chinese Patients ◽  
Novel Mutations ◽  
Darier Disease

Identification of two novel mutations in Chinese patients with Dyschromatosis symmetrica hereditaria

2005 ◽  
Vol 297 (5) ◽  
pp. 196-200 ◽  
Author(s):  
Ming Li ◽  
Chengrang Li ◽  
Haikang Hua ◽  
Wenyuan Zhu ◽  
Yan Lu ◽  
...  
Keyword(s):  
Chinese Patients ◽  
Novel Mutations ◽  
Dyschromatosis Symmetrica Hereditaria

Novel Mutations in CLN5 of Chinese Patients With Neuronal Ceroid Lipofuscinosis

2018 ◽  
Vol 33 (13) ◽  
pp. 837-850 ◽  
Author(s):  
Lv Ge ◽  
Han Yun Li ◽  
Yuan Hai ◽  
Liu Min ◽  
Li Xing ◽  
...  
Keyword(s):  
Age Of Onset ◽  
Neuronal Ceroid Lipofuscinosis ◽  
Hereditary Disease ◽  
Chinese Patients ◽  
Missense Mutations ◽  
Novel Mutations ◽  
Neuronal Protein ◽  
Ceroid Lipofuscinosis ◽  
Visual Problems ◽  
Homozygous Mutations

Neuronal ceroid lipofuscinosis is a hereditary disease, and ceroid-lipofuscinosis neuronal protein 5 (CLN5) has been proved to be associated with neuronal ceroid lipofuscinosis. Here we report 3 patients from 2 families diagnosed with CLN5 neuronal ceroid lipofuscinosis. Whole genome sequencing of DNAs from 3 patients and their families revealed 3 novel homozygous mutations, including 1 deletion CLN5.c718 719delAT and 2 missense mutations c.1082T>C and c.623G>A. We reviewed 278 papers about neuronal ceroid lipofuscinosis resulting from CLN5 mutations and compared Chinese cases with 27 European and American cases. The overall age of onset of European and American patients occur mainly at 3 to 6 years (66%, 18/27), 100% (27/27) of patients had psychomotor regression, 99% (26/27) patients presented vision decline, and 70% (19/27) of patients suffered seizures. In China, the age of onset in 3 patients was 5 years, but for 1 patient it was at 17 months. Four Chinese patients presented psychomotor deterioration and seizures; only 1 had visual problems.

Identification of eight novel mutations in 11 Chinese patients with maple syrup urine disease

2020 ◽  
Vol 16 (4) ◽  
pp. 401-410 ◽  
Author(s):  
Wei-Hua Sun ◽  
Bing-Bing Wu ◽  
Ya-Qiong Wang ◽  
Meng-Yuan Wu ◽  
Xin-Ran Dong ◽  
...  
Keyword(s):  
Maple Syrup Urine Disease ◽  
Chinese Patients ◽  
Novel Mutations ◽  
Maple Syrup ◽  
Urine Disease

Eleven novel mutations and clinical characteristics in seven Chinese patients with thiamine metabolism dysfunction syndrome

2020 ◽  
Vol 63 (10) ◽  
pp. 104003 ◽  
Author(s):  
Dongxiao Li ◽  
Jinqing Song ◽  
Xiyuan Li ◽  
Yi Liu ◽  
Hui Dong ◽  
...  
Keyword(s):  
Clinical Characteristics ◽  
Chinese Patients ◽  
Novel Mutations ◽  
Thiamine Metabolism

Eight novel mutations detected from eight Chinese patients with isovaleric acidemia

2019 ◽  
Vol 498 ◽  
pp. 116-121 ◽  
Author(s):  
Yanhan Li ◽  
Ming Shen ◽  
Ying Jin ◽  
Yi Liu ◽  
Lulu Kang ◽  
...  
Keyword(s):  
Chinese Patients ◽  
Novel Mutations ◽  
Isovaleric Acidemia

scholarly journals Novel mutations found in the ATP7B gene in Chinese patients with Wilson's disease

2019 ◽  
Vol 7 (5) ◽  
pp. e649
Author(s):  
Zhiling Qian ◽  
Xiongwei Cui ◽  
Yunli Huang ◽  
Yanmin Liu ◽  
Ning Li ◽  
...  
Keyword(s):  
Wilson’S Disease ◽  
Wilson's Disease ◽  
Chinese Patients ◽  
Atp7b Gene ◽  
Novel Mutations

Novel Mutations of NODAL Gene in Chinese Patients with Congenital Heart Disease

2012 ◽  
Vol 16 (4) ◽  
pp. 306-309
Author(s):  
Lei Sun ◽  
Longfei Cheng ◽  
Hanquan Dong ◽  
Binbin Wang ◽  
Guoying Huang ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Congenital Heart ◽  
Chinese Patients ◽  
Novel Mutations

Identification of novel mutations in HFE, HFE2, TfR2, and SLC40A1 genes in Chinese patients affected by hereditary hemochromatosis

2016 ◽  
Vol 105 (4) ◽  
pp. 521-525 ◽  
Author(s):  
Yongwei Wang ◽  
Yali Du ◽  
Gang Liu ◽  
Shanshan Guo ◽  
Bo Hou ◽  
...  
Keyword(s):  
Hereditary Hemochromatosis ◽  
Chinese Patients ◽  
Novel Mutations

scholarly journals Clinical Features and Genetic Analysis of 20 Chinese Patients with X-Linked Hyper-IgM Syndrome

2014 ◽  
Vol 2014 ◽  
pp. 1-12 ◽  
Author(s):  
Lin-Lin Wang ◽  
Wei Zhou ◽  
Wei Zhao ◽  
Zhi-Qing Tian ◽  
Wei-Fan Wang ◽  
...  
Keyword(s):  
Cd40 Ligand ◽  
Chinese Patients ◽  
Primary Immunodeficiency Diseases ◽  
Novel Mutations ◽  
Hematopoietic Stem ◽  
Molecular Features ◽  
School Of Medicine ◽  
Hyper Igm Syndrome ◽  
Bioinformatics Software ◽  
Hyper Igm

X-linked hyper-IgM syndrome (XHIGM) is one type of primary immunodeficiency diseases, resulting from defects in the CD40 ligand/CD40 signaling pathways. We retrospectively analyzed the clinical and molecular features of 20 Chinese patients diagnosed and followed up in hospitals affiliated to Shanghai Jiao Tong University School of Medicine from 1999 to 2013. The median onset age of these patients was 8.5 months (range: 20 days–21 months). Half of them had positive family histories, with a shorter diagnosis lag. The most common symptoms were recurrent sinopulmonary infections (18 patients, 90%), neutropenia (14 patients, 70%), oral ulcer (13 patients, 65%), and protracted diarrhea (13 patients, 65%). Six patients had BCGitis. Six patients received hematopoietic stem cell transplantations and four of them had immune reconstructions and clinical remissions. Eighteen unique mutations inCD40Lgene were identified in these 20 patients from 19 unrelated families, with 12 novel mutations. We compared with reported mutation results and used bioinformatics software to predict the effects of mutations on the target protein. These mutations reflected the heterogeneity ofCD40Lgene and expanded our understanding of XHIGM.

Sign in / Sign up

Export Citation Format

Share Document