scholarly journals Clinical and molecular genetic analysis of a Chinese family with hereditary elliptocytosis caused by a novel mutation in the EPB41 gene

2021 ◽  
Author(s):  
Manxiong Cao ◽  
Zhanqin Huang ◽  
Huanbing Zhou ◽  
Jinghua Lin ◽  
Dongqing Zhang
Keyword(s):  
Genetic Analysis ◽  
Novel Mutation ◽  
Molecular Genetic ◽  
Molecular Genetic Analysis ◽  
Chinese Family ◽  
Hereditary Elliptocytosis

Farber lipogranulomatosis: clinical and molecular genetic analysis reveals a novel mutation in an Indian family

2006 ◽  
Vol 51 (9) ◽  
pp. 811-814 ◽  
Author(s):  
Akela Radha Rama Devi ◽  
Munimanda Gopikrishna ◽  
Raman Ratheesh ◽  
Gorinabele Savithri ◽  
Gowrishankar Swarnalata ◽  
...  
Keyword(s):  
Genetic Analysis ◽  
Novel Mutation ◽  
Molecular Genetic ◽  
Molecular Genetic Analysis ◽  
Indian Family

scholarly journals Familial amyloidosis in one Chinese family: clinical, immunological, and molecular genetic analysis

1997 ◽  
Vol 241 (4) ◽  
pp. 327-331 ◽  
Author(s):  
CHUNG-TEI CHOU ◽  
CHENG-CHUN LEE ◽  
DEH-MING CHANG ◽  
JOEL N. BUXBAUM ◽  
DANIEL R. JACOBSON
Keyword(s):  
Genetic Analysis ◽  
Molecular Genetic ◽  
Molecular Genetic Analysis ◽  
Chinese Family

scholarly journals Repeated molecular genetic analysis in Brugada syndrome revealed a novel disease-associated large deletion in the SCN5A gene

2016 ◽  
Vol 2 (3) ◽  
pp. 261-264 ◽  
Author(s):  
Anders Krogh Broendberg ◽  
Lisbeth Noerum Pedersen ◽  
Jens Cosedis Nielsen ◽  
Henrik Kjaerulf Jensen
Keyword(s):  
Genetic Analysis ◽  
Brugada Syndrome ◽  
Molecular Genetic ◽  
Large Deletion ◽  
Molecular Genetic Analysis ◽  
Scn5a Gene

scholarly journals A Novel Mutation of ATP7B Gene in a Case of Wilson Disease

Medicina ◽  
2021 ◽  
Vol 57 (2) ◽  
pp. 123
Author(s):  
Cigdem Yuce Kahraman ◽  
Ali Islek ◽  
Abdulgani Tatar ◽  
Özlem Özdemir ◽  
Adil Mardinglu ◽  
...  
Keyword(s):  
Wilson Disease ◽  
Novel Mutation ◽  
Molecular Genetic ◽  
Molecular Genetic Analysis ◽  
Compound Heterozygous ◽  
Atp7b Gene ◽  
Loss Of Function ◽  
Clinical Presentations ◽  
The Family ◽  
The Brain

Wilson disease (WD) (OMIM# 277900) is an autosomal recessive inherited disorder characterized by excess copper (Cu) storage in different human tissues, such as the brain, liver, and the corneas of the eyes. It is a rare disorder that occurs in approximately 1 in 30,000 individuals. The clinical presentations of WD are highly varied, primarily consisting of hepatic and neurological conditions. WD is caused by homozygous or compound heterozygous mutations in the ATP7B gene. The diagnosis of the disease is complicated because of its heterogeneous phenotypes. The molecular genetic analysis encourages early diagnosis, treatment, and the opportunity to screen individuals at risk in the family. In this paper, we reported a case with a novel, hotspot-located mutation in WD. We have suggested that this mutation in the ATP7B gene might contribute to liver findings, progressing to liver failure with a loss of function effect. Besides this, if patients have liver symptoms in childhood and/or are children of consanguineous parents, WD should be considered during the evaluation of the patients.

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