Gene · 2024
Overexpanded CAG repeats in ATN1 cause an Early-Onset Case of Dentatorubral-Pallidoluysian atrophy with novel phenotypes and a literature Review of Chinese patients.
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Fan Shiqi, Tang Kaichen, Chen Jinxiao, Sun Miao, Chen Qian
Аннотация
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.
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.