Novel mutations of theADAR1gene in two Chinese families with dyschromatosis symmetrica hereditaria

2016 ◽  
Vol 55 (10) ◽  
pp. e565-e568 ◽  
Author(s):  
Yuan Lv ◽  
Yan Zhao ◽  
Xue-Gang Xu ◽  
Hong-kun Jiang ◽  
Cai-Xia Liu
Keyword(s):  
Novel Mutations ◽  
Chinese Families ◽  
Dyschromatosis Symmetrica Hereditaria

scholarly journals Seven novel mutations of theADAR gene in Chinese families and sporadic patients with dyschromatosis symmetrica hereditaria (DSH)

2004 ◽  
Vol 23 (6) ◽  
pp. 629-630 ◽  
Author(s):  
Xue-Jun Zhang ◽  
Ping-Ping He ◽  
Ming Li ◽  
Chun-Di He ◽  
Kai-Lin Yan ◽  
...  
Keyword(s):  
Novel Mutations ◽  
Chinese Families ◽  
Dyschromatosis Symmetrica Hereditaria

Genetic diagnosis of Hailey–Hailey disease in two Chinese families: novel mutations in theATP2C1gene

2009 ◽  
Vol 34 (8) ◽  
pp. e968-e971 ◽  
Author(s):  
Y. G. Ding ◽  
H. Fang ◽  
L. M. Lao ◽  
X. J. Jiang ◽  
H. C. Chen
Keyword(s):  
Genetic Diagnosis ◽  
Novel Mutations ◽  
Chinese Families

scholarly journals Novel mutations in CRYGC are associated with congenital cataracts in Chinese families

2017 ◽  
Vol 7 (1) ◽  
Author(s):  
Zilin Zhong ◽  
Zehua Wu ◽  
Liyun Han ◽  
Jianjun Chen
Keyword(s):  
Novel Mutations ◽  
Congenital Cataracts ◽  
Chinese Families

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

scholarly journals Novel mutations in HSF4 cause congenital cataracts in Chinese families

2018 ◽  
Vol 19 (1) ◽  
Author(s):  
Zongfu Cao ◽  
Yihua Zhu ◽  
Lijuan Liu ◽  
Shuangqing Wu ◽  
Bing Liu ◽  
...  
Keyword(s):  
Novel Mutations ◽  
Congenital Cataracts ◽  
Chinese Families

Identification of a new β-thalassaemia variant Term CD+32(HBB: c.32A>C) in two Chinese families

2020 ◽  
Vol 73 (9) ◽  
pp. 593-596
Author(s):  
Jianlong Zhuang ◽  
Yu Zheng ◽  
Yuanbai Wang ◽  
Qianmei Zhuang ◽  
Yuying Jiang ◽  
...  
Keyword(s):  
Dna Sequencing ◽  
Elevated Level ◽  
Globin Gene ◽  
Novel Mutations ◽  
Fujian Province ◽  
Chinese Families ◽  
Rare Mutation ◽  
Direct Dna Sequencing ◽  
Her Family ◽  
Blood Disorder

Aimsβ-Thalassaemia is an inherited blood disorder caused by mutations in the β-globin gene cluster. Molecular characterisation of β-thalassaemia is essential for its diagnosis and management. More and more rare and novel mutations have been reported.MethodsTwo Chinese families with β-thalassaemia from Fujian Province were recruited in this study. The phenotypes of the probands were confirmed through haematological analysis. Routine molecular analysis of thalassaemia was employed to identify the common mutations of thalassaemia. The rare and novel mutations were detected by direct DNA sequencing.ResultsIn family 1, the proband, a Chinese woman aged 31 years, showed elevated level of haemoglobin A2 (HbA2). No common mutations associated with β-thalassaemia were detected, whereas a rare mutation Term CD+32(HBB: c.32A>C) was identified through DNA sequencing. Subsequent investigation of the β-thalassaemia mutation in her family showed that her mother, her brother as well as her nephew also carried this mutation. In addition, both the proband’s husband and her son carrying the rare --THAI mutation exhibited decreased levels of MCH, MCH and HbA2. In family 2, the proband, a child aged 1 year, showed elevated level of HbA2, but had no common mutations of β-thalassaemia. The proband was identified carrying the mutation Term CD+32(HBB: c.32A>C), which was inherited from his mother.ConclusionsIn this study, we first report a rare β-thalassaemia mutation in Fujian Province, Southeast China. Moreover, our study also identified this rare mutation in humans. This finding has helped broaden the spectrum of β-thalassaemia mutations in our region and suggested that this rare mutation may be more prevalent in the Chinese population.

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