Journal of clinical neuromuscular disease · 2025
A Family With X-Linked Charcot-Marie-Tooth Disease Type 1: A Case for Reclassifying a Variant of Uncertain Significance in GJB1and Review of the Literature.
СтатьяКлинический случайОбзорНазвание и аннотация: Перевод в очереди
Обработка статьи · этапы, ошибки и управление
Загрузка состояния…
Ошибки и ограничения
История · было → стало
Состояние обновляется каждые 5 секунд, пока блок открыт. Процент показывается только там, где известен объём работы. Пауза останавливает продолжение этапа; текущий запрос к источнику может завершиться.
Chrisman Christina, Keshav Ritwik, Record Christopher J, Shprecher David, Haddad Saif, Crincoli Michael, Reilly Mary M
Аннотация
OBJECTIVES: X-linked Charcot-Marie-Tooth disease Type 1 (CMTX1), caused by gap junction beta-1 (GJB1) mutations, is the second most common form of CMT. Patients present with length-dependent sensorimotor polyneuropathy and split hand syndrome. Males are more severely affected; females show variable symptoms because of skewed X-inactivation. This study reclassifies a GJB1 variant of uncertain significance as pathogenic using American College of Medical Genetics criteria.
METHODS: A family with neurologic symptoms underwent clinical evaluation, electrodiagnostic studies, genetic testing, and imaging.
RESULTS: Affected individuals exhibited a sensorimotor polyneuropathy in an X-linked inheritance pattern with males having earlier, more severe symptoms. Characteristic findings included split hand syndrome and the suggestion of stroke-like episodes. Genetic testing revealed a GJB1 c.841T>C p.(Ser281Pro) variant. Analysis met American College of Medical Genetics criteria (1 strong, 3 moderate, 1 supporting) for pathogenicity.
CONCLUSIONS: The Ser281Pro GJB1 variant meets pathogenic criteria for CMTX1, extending known pathogenic regions beyond the C-terminal Arg220 codon.
METHODS: A family with neurologic symptoms underwent clinical evaluation, electrodiagnostic studies, genetic testing, and imaging.
RESULTS: Affected individuals exhibited a sensorimotor polyneuropathy in an X-linked inheritance pattern with males having earlier, more severe symptoms. Characteristic findings included split hand syndrome and the suggestion of stroke-like episodes. Genetic testing revealed a GJB1 c.841T>C p.(Ser281Pro) variant. Analysis met American College of Medical Genetics criteria (1 strong, 3 moderate, 1 supporting) for pathogenicity.
CONCLUSIONS: The Ser281Pro GJB1 variant meets pathogenic criteria for CMTX1, extending known pathogenic regions beyond the C-terminal Arg220 codon.