scholarly journals Mutational analysis of a Chinese family with oculocutaneous albinism type 2

Oncotarget ◽  
2017 ◽  
Vol 8 (41) ◽  
pp. 70345-70355
Author(s):  
Xiong Wang ◽  
Yaowu Zhu ◽  
Na Shen ◽  
Jing Peng ◽  
Chunyu Wang ◽  
...  
Keyword(s):  
Mutational Analysis ◽  
Oculocutaneous Albinism ◽  
Chinese Family

scholarly journals INF2 p.Arg214Cys mutation in a Chinese family with rapidly progressive renal failure and follow-up of renal transplantation: case report and literature review

2021 ◽  
Vol 22 (1) ◽  
Author(s):  
Wenbo Zhao ◽  
Xinxin Ma ◽  
Xiaohao Zhang ◽  
Dan Luo ◽  
Jun Zhang ◽  
...  
Keyword(s):  
Renal Failure ◽  
Renal Disease ◽  
Autosomal Dominant ◽  
Mutational Analysis ◽  
Elevated Serum ◽  
Chinese Family ◽  
Progressive Renal Failure ◽  
Rapidly Progressive Renal Failure ◽  
Stage Renal Disease ◽  
End Stage

Abstract Background Heterozygous mutations in the inverted formin 2 (INF2) gene are related to secondary focal segmental glomerulosclerosis (FSGS), a rare secondary disease associated with rapidly progressive renal failure. Case presentation We report a patient with familial autosomal INF2 mutation manifesting nephritic syndromes and elevated serum creatinine levels. Mutational analysis revealed an autosomal dominant (AD) inheritance pattern and a mutation in exon 4 (p.Arg214Cys) of INF2 as the likely cause, which has not been previously described in an Asian family. The patient progressed to end-stage renal disease (ESRD) and received hemodialysis. His mother had undergone renal transplant 3 years earlier, and his grandmother had carried the p.Arg214Cys mutation for more than 80 years without any sign of renal dysfunction. Conclusions This is the first report to identify an association between a familial autosomal dominant INF2 p.Arg214Cys mutation and rapidly progressive renal disease in an Asian family. INF2 mutation analysis should not be restricted to individuals without family history of FSGS, rather it should also be performed on individuals for whom drug-based therapies are not effective. In this case, kidney transplant is an effective alternative.

scholarly journals Mutation analysis of a Chinese family with oculocutaneous albinism

Oncotarget ◽  
2016 ◽  
Vol 7 (51) ◽  
pp. 84981-84988 ◽  
Author(s):  
Xiong Wang ◽  
Yaowu Zhu ◽  
Na Shen ◽  
Jing Peng ◽  
Chunyu Wang ◽  
...  
Keyword(s):  
Mutation Analysis ◽  
Oculocutaneous Albinism ◽  
Chinese Family

scholarly journals Mutational Analysis of Mitochondrial tRNA Genes in 200 Patients with Type 2 Diabetes Mellitus

2021 ◽  
Vol Volume 14 ◽  
pp. 5719-5735
Author(s):  
Liangyan Lin ◽  
Dongdong Zhang ◽  
Qingsong Jin ◽  
Yaqin Teng ◽  
Xiaoyan Yao ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Type 2 Diabetes ◽  
Type 2 Diabetes Mellitus ◽  
Mutational Analysis ◽  
Trna Genes ◽  
Mitochondrial Trna ◽  
Mitochondrial Trna Genes

scholarly journals A novel start codon variant in SMCHD1 from a Chinese family causes facioscapulohumeral muscular dystrophy type 2

2021 ◽  
Vol Publish Ahead of Print ◽  
Author(s):  
Liang-Liang Qiu ◽  
Xiao-Dan Lin ◽  
Guo-Rong Xu ◽  
Li-Li Wang ◽  
Zhi-Xian Ye ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Facioscapulohumeral Muscular Dystrophy ◽  
Start Codon ◽  
Chinese Family

A Chinese family with familial hemiplegic migraine type 2 due to a novel missense mutation in ATP1A2

Cephalalgia ◽  
2019 ◽  
Vol 39 (11) ◽  
pp. 1382-1395
Author(s):  
Wenjing Tang ◽  
Meichen Zhang ◽  
Enchao Qiu ◽  
Shanshan Kong ◽  
Yingji Li ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Novel Mutation ◽  
Clinical Manifestations ◽  
Pathogenic Mutation ◽  
Familial Hemiplegic Migraine ◽  
Chinese Family ◽  
Hemiplegic Migraine ◽  
Pathogenic Potential ◽  
The Family

Background ATP1A2 has been identified as the genetic cause of familial hemiplegic migraine type 2. Over 80 ATP1A2 mutations have been reported, but no data from Chinese family studies has been included. Here, we report the first familial hemiplegic migraine type 2 Chinese family with a novel missense mutation. Methods Clinical manifestations in the family were recorded. Blood samples from patients and the unaffected members were collected for whole-exome sequencing to identify the pathogenic mutation. Seven online softwares (SIFT, PolyPhen-2, PROVEAN, PANTHER, MutationTaster2, MutationAssessor and PMut) were used for predicting the pathogenic potential of the mutation. PredictProtein, Jpred 4 and PyMOL were used to analyze structural changes of the protein. The mutation function was further tested by Methylthiazolyldiphenyl-tetrazolium bromide (MTT) assay. Results All patients in the family had typical hemiplegic migraine attacks. Co-segregation of the mutation with the migraine phenotype in four generations, with 10 patients, was completed. The identified novel mutation, G762S in ATP1A2, exhibited the disease-causing feature by all the predictive softwares. The mutation impaired the local structure of the protein and decreased cell viability. Conclusion G762S in ATP1A2 is a novel pathogenic mutation identified in a Chinese family with familial hemiplegic migraine, which causes loss of function by changing the protein structure of the Na+/K+-ATPase α2 subunit.

scholarly journals Maternally Inherited Diabetes Mellitus Associated with a Novel m.15897G>A Mutation in Mitochondrial tRNAThr Gene

2020 ◽  
Vol 2020 ◽  
pp. 1-11 ◽  
Author(s):  
Ke Li ◽  
Lijun Wu ◽  
Jianjiang Liu ◽  
Wei Lin ◽  
Qiang Qi ◽  
...  
Keyword(s):  
Age Of Onset ◽  
Complete Mitochondrial Genome ◽  
Mutant Cell ◽  
Atp Synthesis ◽  
Chinese Family ◽  
Molecular Characteristics ◽  
Clinical Genetic ◽  
Mitochondrial Dysfunctions ◽  
Inherited Diabetes

We report here the clinical, genetic, and molecular characteristics of type 2 diabetes in a Chinese family. There are differences in the severity and age of onset in diabetes among these families. By molecular analysis of the complete mitochondrial genome in this family, we identified the homoplasmic m.15897G>A mutation underwent sequence analysis of whole mitochondrial DNA genome, which localized at conventional position ten of tRNAThr, and distinct sets of mtDNA polymorphisms belonging to haplogroup D4b1. This mutation has been implicated to be important for tRNA identity and stability. Using cybrid cell models, the decreased efficiency of mitochondrial tRNAThr levels caused by the m.15897G>A mutation results in respiratory deficiency, protein synthesis and assembly, mitochondrial ATP synthesis, and mitochondrial membrane potential. These mitochondrial dysfunctions caused an increase in the production of reactive oxygen species in the mutant cell lines. These data provide a direct evidence that a novel tRNA mutation was associated with T2DM. Thus, our findings provide a new insight into the understanding of pathophysiology of maternally inherited diabetes.

scholarly journals MC1R Mutations Modify the Classic Phenotype of Oculocutaneous Albinism Type 2 (OCA2)

2003 ◽  
Vol 73 (3) ◽  
pp. 638-645 ◽  
Author(s):  
Richard A. King ◽  
Rebecca K. Willaert ◽  
Ramona M. Schmidt ◽  
Jacy Pietsch ◽  
Sarah Savage ◽  
...  
Keyword(s):  
Oculocutaneous Albinism ◽  
Classic Phenotype

scholarly journals Mutational Analysis of TYR , OCA2, and SLC45A2 Genes in Chinese Families with Oculocutaneous Albinism

2019 ◽  
Vol 7 (7) ◽  
Author(s):  
Ye Lin ◽  
Xihui Chen ◽  
Ying Yang ◽  
Fengyu Che ◽  
Sijia Zhang ◽  
...  
Keyword(s):  
Mutational Analysis ◽  
Oculocutaneous Albinism ◽  
Chinese Families

scholarly journals The distinctive geographic patterns of common pigmentation variants at the OCA2 gene

2020 ◽  
Vol 10 (1) ◽  
Author(s):  
Kenneth K. Kidd ◽  
Andrew J. Pakstis ◽  
Michael P. Donnelly ◽  
Ozlem Bulbul ◽  
Lotfi Cherni ◽  
...  
Keyword(s):  
Genetic Variation ◽  
Oculocutaneous Albinism ◽  
Selection Effects ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Eye Color ◽  
Geographic Patterns ◽  
Population Genetic Variation ◽  
Oca2 Gene

Abstract Oculocutaneous Albinism type 2 (OCA2) is a gene of great interest because of genetic variation affecting normal pigmentation variation in humans. The diverse geographic patterns for variant frequencies at OCA2 have been evident but have not been systematically investigated, especially outside of Europe. Here we examine population genetic variation in and near the OCA2 gene from a worldwide perspective. The very different patterns of genetic variation found across world regions suggest strong selection effects may have been at work over time. For example, analyses involving the variants that affect pigmentation of the iris argue that the derived allele of the rs1800407 single nucleotide polymorphism, which produces a hypomorphic protein, may have contributed to the previously demonstrated positive selection in Europe for the enhancer variant responsible for light eye color. More study is needed on the relationships of the genetic variation at OCA2 to variation in pigmentation in areas beyond Europe.

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