Inherited Spinocerebellar Ataxia Segregates with Intra-Familial Genetic Heterogeneity in a Consanguineous Pakistani Family: A Report of a Potential Novel Candidate Gene

Hereditary spinocerebellar ataxia (SCA) is a group of genetic neurodegenerative disorders caused by a variety of gene variants. At least 44 types of SCAs have been identified to date, and more than 35 genes and hundreds of variants have been reported that are associated with SCAs. We have investigated a Pakistani consanguineous six-generation family with SCA by using whole-exome sequencing analysis. We identified a reported SCA-associated variant, c.C2687G (p.P896R) in <i>CACNA1A</i>, in only a subgroup of the family, while a c.C262T (p.P88S) variant in <i>ARFIP1</i> serves as a candidate pathogenic variant in the other subgroup as a possible novel cause of SCA. Our study showed that intra-familial heterogeneity may exist in SCA families and presented a candidate new causative gene for SCA.

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Journal
DNA and Cell Biology
Published
2024-11-07
DOI
https://doi.org/10.1089/dna.2024.0130
Primary Topic
Genetic Neurodegenerative Diseases
Type
article
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article

Inherited Spinocerebellar Ataxia Segregates with Intra-Familial Genetic Heterogeneity in a Consanguineous Pakistani Family: A Report of a Potential Novel Candidate Gene

Yaqi Zhou, Xiaochan Lu, Jiatao Zhong, Lei Liu et al.
DNA and Cell Biology
Genetic Neurodegenerative Diseases
article

Inherited Spinocerebellar Ataxia Segregates with Intra-Familial Genetic Heterogeneity in a Consanguineous Pakistani Family: A Report of a Potential Novel Candidate Gene

Yaqi Zhou, Xiaochan Lu, Jiatao Zhong, Lei Liu, Furhan Iqbal, Lingchao Ji, Tao Yang, Xueshuang Mei, Arusa Ejaz, Su Liu, Gamal A. Shazly, Mahboob Qadir, Na Yin, Jun Xu, Hongyi Hu, Muhammad Asif, Yuanyuan Yang, Weiping Ye
article en

Abstract

Hereditary spinocerebellar ataxia (SCA) is a group of genetic neurodegenerative disorders caused by a variety of gene variants. At least 44 types of SCAs have been identified to date, and more than 35 genes and hundreds of variants have been reported that are associated with SCAs. We have investigated a Pakistani consanguineous six-generation family with SCA by using whole-exome sequencing analysis. We identified a reported SCA-associated variant, c.C2687G (p.P896R) in <i>CACNA1A</i>, in only a subgroup of the family, while a c.C262T (p.P88S) variant in <i>ARFIP1</i> serves as a candidate pathogenic variant in the other subgroup as a possible novel cause of SCA. Our study showed that intra-familial heterogeneity may exist in SCA families and presented a candidate new causative gene for SCA.

DNA and Cell BiologyVol. 44(1)
Bahauddin Zakariya University (PK), Shenzhen University (CN), Shanghai Jiao Tong University (CN), Nishtar Medical College and Hospital (PK), King Saud University (SA), Shanghai Changning Maternity and Infant Health Hospital (CN), Shanghai Ninth People's Hospital (CN), Peking University Shenzhen Hospital (CN), Shanghai First Maternity and Infant Hospital (CN)
Good health and well-being
Openalex Percentile: Top 79%
Genetic Neurodegenerative Diseases
DOISourceOpenAlex
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