Article: RFC1
2024 Volume 10, Issue 3, Page(s) e200149
Abstract: Background and objectives: The intronic biallelic AAGGG expansion in the replication factor C subunit 1 (: Methods: Cypriot undiagnosed patients, in the majority presenting at least with cerebellar ataxia and non-neurologic disease controls, were ... ...
Abstract | Background and objectives: The intronic biallelic AAGGG expansion in the replication factor C subunit 1 ( Methods: Cypriot undiagnosed patients, in the majority presenting at least with cerebellar ataxia and non-neurologic disease controls, were included in this study. A combination of conventional methods was used, including standard PCR flanking the repeat region, repeat-primed PCR, long-range PCR, and Sanger sequencing. Bioinformatics analysis of already available in-house short-read whole-genome sequencing data was also performed. Results: A large group of undiagnosed patients (n = 194), mainly presenting with pure ataxia or with ataxia accompanied by neuropathy or additional symptoms, as well as a group of non-disease controls (n = 100), were investigated in the current study. Our findings include the diagnosis of 10 patients homozygous for the pathogenic AAGGG expansion and a high percentage of heterozygous AAGGG carriers in both groups. The benign AAAAG Discussion: Our findings indicate the existence of genetic heterogeneity regarding the |
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Language | English |
Publishing date | 2024-04-25 |
Publishing country | United States |
Document type | Journal Article |
ZDB-ID | 2818607-2 |
ISSN | 2376-7839 |
ISSN | 2376-7839 |
DOI | 10.1212/NXG.0000000000200149 |
Database | MEDical Literature Analysis and Retrieval System OnLINE |
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