Biallelic loss-of-function variants in NEMF cause central nervous system impairment and axonal polyneuropathy.

doi:10.1007/s00439-020-02226-3

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Article

Biallelic loss-of-function variants in NEMF cause central nervous system impairment and axonal polyneuropathy.

Human genetics - 1 Apr 2021

Ahmed Ashfaque, Wang Meng, Bergant Gaber, Maroofian Reza, Zhao Rongjuan, Alfadhel Majid, Nashabat Marwan, AlRifai Muhammad Talal, Eyaid Wafaa, Alswaid Abdulrahman, Beetz Christian, Qin Yan, Zhu Tengfei, Tian Qi, Xia Lu, Wu Huidan, Shen Lu, Dong Shanshan, Yang Xinyi, Liu Cenying, Ma Linya, Zhang Qiumeng, Khan Rizwan, Shah Abid Ali, Guo Jifeng, Tang Beisha, Leonardis Lea, Writzl Karin, Peterlin Borut, Guo Hui, Malik Sajid, Xia Kun, Hu Zhengmao

Abstract excerpt

We aimed to detect the causative gene in five unrelated families with recessive inheritance pattern neurological disorders involving the central nervous system, and the potential function of the NEMF gene in the central nervous system. Exome sequencing (ES) was applied to all families and linkage analysis was performed on family 1. A minigene assay was used to validate the splicing effect of the relevant...

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PMID: 33048237
DOI: 10.1007/s00439-020-02226-3

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