Overexpanded CAG repeats in ATN1 cause an Early-Onset Case of Dentatorubral-Pallidoluysian atrophy with novel phenotypes and a literature Review of Chinese patients.

Autor: Fan S; McKusick-Zhang Center for Genetic Medicine, State Key Laboratory for Complex Severe and Rare Diseases, Institute of Basic Medical Sciences Chinese Academy of Medical Sciences, School of Basic Medicine Peking Union Medical College, Beijing, China., Tang K; McKusick-Zhang Center for Genetic Medicine, State Key Laboratory for Complex Severe and Rare Diseases, Institute of Basic Medical Sciences Chinese Academy of Medical Sciences, School of Basic Medicine Peking Union Medical College, Beijing, China., Chen J; Department of Neurology, the Affiliated Hospital of Capital Institute of Pediatrics, Beijing, China., Sun M; McKusick-Zhang Center for Genetic Medicine, State Key Laboratory for Complex Severe and Rare Diseases, Institute of Basic Medical Sciences Chinese Academy of Medical Sciences, School of Basic Medicine Peking Union Medical College, Beijing, China. Electronic address: miaosun@ibms.pumc.edu.cn., Chen Q; Department of Neurology, the Affiliated Hospital of Capital Institute of Pediatrics, Beijing, China. Electronic address: chenqianxhl@163.com.
Jazyk: angličtina
Zdroj: Gene [Gene] 2024 Dec 30; Vol. 931, pp. 148881. Date of Electronic Publication: 2024 Aug 23.
DOI: 10.1016/j.gene.2024.148881
Abstrakt: Objective: Dentatorubral-pallidoluysian atrophy (DRPLA) is an inherited neurodegenerative disease caused by CAG overexpansion (≥48 tandem copies) in ATN1. The aim of this research was to explore the genetic cause of a large Chinese DRPLA pedigree and to review the characteristics of Chinese DRPLA patients.
Methods: Suspected variants were screened by high-throughput sequencing. The number of CAG repeats was assessed by polymerase chain reaction using FAM-labeled primers followed by capillary electrophoresis. Literature on previously reported DRPLA cases with overexpanded ATN1 CAG repeats in China was reviewed.
Results: After contracting a lung infection, the proband suffered early-onset DRPLA symptoms and novel phenotypes, transitioning from insomnia to stupor. The numbers of CAG repeats in the proband, her grandfather, father, mother, brother, and aunt were 8/81, 17/54, 10/57, 8/10, 10/10, and 10/17, respectively. Possible incomplete penetrance was observed in this pedigree.
Conclusion: We described a large Chinese DRPLA pedigree in which the proband carried the largest CAG expansion reported in China. We also reviewed the characteristics of Chinese DRPLA patients and broadened the phenotypic spectrum.
Competing Interests: Declaration of competing interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper.
(Copyright © 2024. Published by Elsevier B.V.)
Databáze: MEDLINE
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