Identification of novel mutations in WISP3 gene in two unrelated Chinese families with progressive pseudorheumatoid dysplasia

Bone ◽  
2009 ◽  
Vol 44 (4) ◽  
pp. 547-554 ◽  
Author(s):  
Hua Yue ◽  
Zhen-Lin Zhang ◽  
Jin-Wei He
Keyword(s):  
Novel Mutations ◽  
Chinese Families ◽  
Progressive Pseudorheumatoid Dysplasia

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

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.

Novel mutations of the ATP7B gene in Han Chinese families with pre-symptomatic Wilson’s disease

2015 ◽  
Vol 11 (3) ◽  
pp. 255-260 ◽  
Author(s):  
Zhe-Feng Yuan ◽  
Wei Wu ◽  
Yong-Lin Yu ◽  
Jue Shen ◽  
Shan-Shan Mao ◽  
...  
Keyword(s):  
Wilson’S Disease ◽  
Wilson's Disease ◽  
Han Chinese ◽  
Atp7b Gene ◽  
Novel Mutations ◽  
Chinese Families

scholarly journals Novel mutations of RPGR in Chinese families with X-linked retinitis pigmentosa

2019 ◽  
Vol 19 (1) ◽  
Author(s):  
Zhimeng Zhang ◽  
Hehua Dai ◽  
Lei Wang ◽  
Tianchang Tao ◽  
Jing Xu ◽  
...  
Keyword(s):  
Retinitis Pigmentosa ◽  
Mutation Screening ◽  
Phenotype Correlation ◽  
Novel Mutations ◽  
Pathological Myopia ◽  
Nonsense Mutations ◽  
Chinese Families ◽  
Coding Regions ◽  
Genotype Phenotype Correlation ◽  
Male Patients

Abstract Background RP (retinitis pigmentosa) is a group of hereditary retinal degenerative diseases. XLRP is a relatively severe subtype of RP. Thus, it is necessary to identify genes and mutations in patients who present with X-linked retinitis pigmentosa. Methods Genomic DNA was extracted from peripheral blood. The coding regions and intron-exon boundaries of the retinitis pigmentosa GTPase regulator (RPGR) and RP2 genes were amplified by PCR and then sequenced directly. Ophthalmic examinations were performed to identify affected individuals from two families and to characterize the phenotype of the disease. Results Mutation screening demonstrated two novel nonsense mutations (c.1541C > G; p.S514X and c.2833G > T; p.E945X) in the RPGR gene. The clinical manifestation of family 1 with mutations in exon 13 was mild. Genotype-phenotype correlation analysis suggested that patients with mutations close to the downstream region of ORF15 in family 2 manifested an early loss of cone function. Family 2 carried a nonsense mutation in ORF15 that appeared to have a semi-dominant pattern of inheritance. All male patients and two female carriers in family 2 manifested pathological myopia (PM), indicating that there may be a distinctive X-linked genotype-phenotype correlation between RP and PM. Conclusions We identified two novel mutations of the RPGR gene, which broadens the spectrum of RPGR mutations and the phenotypic spectrum of the disease in Chinese families.

Identification of two novel mutations in three Chinese families with Kallmann syndrome using whole exome sequencing

Andrologia ◽  
2020 ◽  
Vol 52 (7) ◽  
Author(s):  
Qin Zhang ◽  
Hong‐hui He ◽  
Muhammad Usman Janjua ◽  
Fang Wang ◽  
You‐bo Yang ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Kallmann Syndrome ◽  
Novel Mutations ◽  
Chinese Families ◽  
Whole Exome

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
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