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扩展 ERLIN2 相关疾病的遗传图谱。

Expansion of the genetic landscape of ERLIN2-related disorders.

机构信息

Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.

Molecular Medicine, IRCCS Fondazione Stella Maris, Pisa, Italy.

出版信息

Ann Clin Transl Neurol. 2020 Apr;7(4):573-578. doi: 10.1002/acn3.51007. Epub 2020 Mar 8.

DOI:10.1002/acn3.51007
PMID:32147972
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7187699/
Abstract

ERLIN2-related disorders are rare conditions of the motor system and clinical details are limited to a small number of prior descriptions. We here presented clinical and genetic details in five individuals (four different families) where three subjects carried a common homozygous p.Asn292ArgfsX26, associated also with sensorineural hearing loss in one child. One further subject had a de novo p.Gln63Lys and one harbors the homozygous p.Val136Gly because of maternal isodisomy of chromosome 8. Overall, we expanded the clinical and genetic spectrum of ERLIN2-related disorders and we reiterate that autosomal-dominant transmission is a potential mode of inheritance. Future research will elucidate disease mechanisms.

摘要

ERLIN2 相关疾病是罕见的运动系统疾病，临床细节仅限于少数先前的描述。我们在此介绍了五名个体（四个不同的家庭）的临床和遗传细节，其中三名受试者携带常见的纯合子 p.Asn292ArgfsX26，也与一名儿童的感音神经性听力损失有关。另一名受试者存在新发的 p.Gln63Lys，一名受试者携带纯合子 p.Val136Gly，因为其 8 号染色体的母源等臂染色体。总体而言，我们扩展了 ERLIN2 相关疾病的临床和遗传谱，并再次强调常染色体显性遗传是一种潜在的遗传模式。未来的研究将阐明疾病机制。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/47bd/7187699/f1f986534a13/ACN3-7-573-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/47bd/7187699/f1f986534a13/ACN3-7-573-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/47bd/7187699/f1f986534a13/ACN3-7-573-g001.jpg

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