Giant axonal neuropathy ( GAN ) in an 8‐year‐old girl caused by a homozygous pathogenic splicing variant in GAN gene-Reference-Cited by-同舟云学术

Giant axonal neuropathy ( GAN ) in an 8‐year‐old girl caused by a homozygous pathogenic splicing variant in GAN gene

Published:2021-12-10 Issue: Volume: Page:
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Guo Yufan¹^ORCID,Su Qunyan²,Zhu Xueying³,Wang Jianda¹,Lou Yuting¹,Miao Pu¹,Wang Ye¹,Zhang Bijun¹,Jin Yuting¹,Gao Liuyan¹,Xu Xiaoxiao¹,Chen Wangyang⁴,Sheng Min⁴,Feng Jianhua¹^ORCID

Affiliation:

1. Department of Pediatrics, The Second Affiliated Hospital, School of Medicine Zhejiang University Hangzhou Zhejiang China

2. Taizhou Women and Children's Hospital Hangzhou Zhejiang China

3. Lanxi People's Hospital, School of Medicine Zhejiang University Hangzhou Zhejiang China

4. Kaiumph Medical Diagnostics Co., Ltd. Beijing China

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62592

Reference26 articles.

1. A novel mutation in the GAN gene causes an intermediate form of giant axonal neuropathy in an Arab–Israeli family;Abu‐Rashid, M.;European Journal of Paediatric Neurology,2013

2. Novel homozygous missense variant in GAN associated with CharcotMarie‐Tooth disease type 2 in a large consanguineous family from Israel;Aharoni S.;BMC Medical Genetics,2016

3. Gigaxonin‐controlled degradation of MAP1B light chain is critical to neuronal survival;Allen E.;Nature,2005

4. Molecular diagnosis of inherited peripheral neuropathies by targeted next‐generation sequencing: Molecular spectrum delineation;Bacquet J.;BMJ Open,2018

5. The instability of the BTB‐KELCH protein Gigaxonin causes Giant Axonal Neuropathy and constitutes a new penetrant and specific diagnostic test;Boizot, A.;Acta Neuropathologica Communications,2014

Cited by 4 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Ubiquitin system mutations in neurological diseases;Trends in Biochemical Sciences;2024-07

2. Giant Axonal Neuropathy: A Case Report of Subclinical Childhood Manifestations;Cureus;2024-02-17

3. Expanding the genetic spectrum of giant axonal neuropathy: Two novel variants in Iranian families;Molecular Genetics & Genomic Medicine;2023-03-03

4. Genetic Approaches for the Treatment of Giant Axonal Neuropathy;Journal of Personalized Medicine;2022-12-30