ANXA11 mutations prevail in Chinese ALS patients with and without cognitive dementia

Neurology. Genetics
Kang ZhangLi-Ying Cui

Abstract

To investigate the genetic contribution of ANXA11, a gene associated with amyotrophic lateral sclerosis (ALS), in Chinese ALS patients with and without cognitive dementia. Sequencing all the coding exons of ANXA11 and intron-exon boundaries in 18 familial amyotrophic lateral sclerosis (FALS), 353 unrelated sporadic amyotrophic lateral sclerosis (SALS), and 12 Chinese patients with ALS-frontotemporal lobar dementia (ALS-FTD). The transcripts in peripheral blood generated from a splicing mutation were examined by reverse transcriptase PCR. We identified 6 nonsynonymous heterozygous mutations (5 novel and 1 recurrent), 1 splice site mutation, and 1 deletion of 10 amino acids (not accounted in the mutant frequency) in 11 unrelated patients, accounting for a mutant frequency of 5.6% (1/18) in FALS, 2.3% (8/353) in SALS, and 8.3% (1/12) in ALS-FTD. The deletion of 10 amino acids was detected in 1 clinically undetermined male with an ALS family history who had atrophy in hand muscles and myotonic discharges revealed by EMG. The novel p. P36R mutation was identified in 1 FALS index, 1 patient with SALS, and 1 ALS-FTD. The splicing mutation (c.174-2A>G) caused in-frame skipping of the entire exon 6. The rest missense mutations including...Continue Reading

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Citations

Nov 9, 2019·Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration·Anne GieselerKarl-Heinz Zacher
Nov 9, 2019·Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration·Jennifer RoggenbuckJonathan Glass
Mar 14, 2019·Science China. Life Sciences·Qianqian WeiHui-Fang Shang
Aug 7, 2019·Cellular and Molecular Neurobiology·Benedetta PerroneSebastiano Cavallaro
Apr 30, 2020·Biomolecules·Peder A G LillebostadPetri Kursula
Sep 9, 2020·Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration·Xiaohan SunXue Zhang
Oct 23, 2020·Science Translational Medicine·Minyeop NahmSeung Hyun Kim
Oct 23, 2020·Journal of Neurology, Neurosurgery, and Psychiatry·Xiaohan SunXue Zhang
Jan 30, 2021·Nature Neuroscience·Michael S FernandopulleMichael E Ward
Nov 22, 2020·Neurobiology of Aging·Elisa TeyssouStéphanie Millecamps
Feb 24, 2021·Neurobiology of Aging·João Pedro Nunes GonçalvesMarcondes C França
Jun 9, 2021·Acta Neuropathologica Communications·Makoto SainouchiAkiyoshi Kakita
May 29, 2021·Annals of Neurology·Tauana Bernardes LeoniMarcondes C França

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Methods Mentioned

BETA
PCR
reverse transcription PCR
ubiquitination

Software Mentioned

Human Splicing Finder
ESEfinder
CodonCode Aligner
MutationTaster
PolyPhen

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