作者
Matias Wagner, Jonathan Lévy, Sabine Jung-Klawitter, Somayeh Bakhtiari, Fabiola Monteiro, Reza Maroofian, Tatjana Bierhals, Maja Hempel, Monique Elmaleh-Bergès, Joao P Kitajima, Chong A Kim, Julia G Salomao, David J Amor, Monica S Cooper, Laurence Perrin, Eva Pipiras, Axel Neu, Mohammad Doosti, Ehsan G Karimiani, Mehran B Toosi, Henry Houlden, Sheng Chih Jin, Yue C Si, Lance H Rodan, Hanka Venselaar, Michael C Kruer, Fernando Kok, Georg F Hoffmann, Tim M Strom, Saskia B Wortmann, Anne-Claude Tabet, Thomas Opladen
发表日期
2020/6/1
期刊
Genetics in Medicine
卷号
22
期号
6
页码范围
1061-1068
出版商
Elsevier
简介
Purpose
TNR, encoding Tenascin-R, is an extracellular matrix glycoprotein involved in neurite outgrowth and neural cell adhesion, proliferation and migration, axonal guidance, myelination, and synaptic plasticity. Tenascin-R is exclusively expressed in the central nervous system with highest expression after birth. The protein is crucial in the formation of perineuronal nets that ensheath interneurons. However, the role of Tenascin-R in human pathology is largely unknown. We aimed to establish TNR as a human disease gene and unravel the associated clinical spectrum.
Methods
Exome sequencing and an online matchmaking tool were used to identify patients with biallelic variants in TNR.
Results
We identified 13 individuals from 8 unrelated families with biallelic variants in TNR sharing a phenotype consisting of spastic para- or tetraparesis, axial muscular hypotonia, developmental delay, and transient …
学术搜索中的文章
M Wagner, J Lévy, S Jung-Klawitter, S Bakhtiari… - Genetics in Medicine, 2020
