当前位置: X-MOL 学术Ann. Clin. Transl. Neur. › 论文详情
Our official English website, www.x-mol.net, welcomes your feedback! (Note: you will need to create a separate account there.)
Expansion of the genetic landscape of ERLIN2-related disorders.
Annals of Clinical and Translational Neurology ( IF 5.3 ) Pub Date : 2020-03-08 , DOI: 10.1002/acn3.51007
Siddharth Srivastava 1 , Angelica D'Amore 1, 2 , Julie S Cohen 3 , Lindsay C Swanson 1 , Ivana Ricca 2 , Antonella Pini 4 , Ali Fatemi 3 , Darius Ebrahimi-Fakhari 1 , Filippo M Santorelli 2
Affiliation  

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.

中文翻译:

ERLIN2相关疾病的遗传学领域的扩展。

ERLIN2相关疾病是运动系统的罕见疾病,临床细节仅限于少量的先前描述。我们在这里介绍了五个个体(四个不同的家庭)的临床和遗传学细节,其中三个受试者携带了一个纯合子p.Asn292ArgfsX26,也与一个孩子的感音神经性听力下降有关。由于母体8号染色体等位线切割,另一位受试者从头开始出现p.Gln63Lys并携带纯合子p.Val136Gly。总的来说,我们扩大了ERLIN2相关疾病的临床和遗传谱,我们重申常染色体显性传播是一种潜在的继承方式。未来的研究将阐明疾病的机制。
更新日期:2020-03-08
down
wechat
bug