Screening for CCNF Mutations in a Chinese Amyotrophic Lateral Sclerosis Cohort

Frontiers in Aging Neuroscience
Danyang TianDongsheng Fan

Abstract

Previous research has identified CCNF mutations in familial (FALS) and sporadic amyotrophic lateral sclerosis (SALS), as well as in frontotemporal dementia (FTD). The aim of our study was to measure the frequency of CCNF mutations in a Chinese population. In total, 78 FALS patients, 581 SALS patients and 584 controls were included. We found 19 missense mutations, nine synonymous mutations and two intron variants. According to the American College of Medical Genetics and Genomics (ACMG) standards and guidelines for the interpretation of sequence variants, eight variants were judged to be pathogenic or likely pathogenic variants. The frequency of such variants was 2.56% in FALS and 1.03% in SALS. In conclusion, CCNF mutations are common in FALS and SALS patients of Chinese origin, and further study is still needed.

References

Jun 2, 2001·The New England Journal of Medicine·L P Rowland, N A Shneider
Jul 24, 2001·Amyotrophic Lateral Sclerosis and Other Motor Neuron Disorders : Official Publication of the World Federation of Neurology, Research Group on Motor Neuron Diseases·B R BrooksUNKNOWN World Federation of Neurology Research Group on Motor Neuron Diseases
Jan 12, 2005·Neurology·P KaufmannH Mitsumoto
Jan 7, 2011·Amyotrophic Lateral Sclerosis : Official Publication of the World Federation of Neurology Research Group on Motor Neuron Diseases·Susan ByrneOrla Hardiman
Jun 26, 2012·Neurobiology of Aging·Kotaro OgakiUNKNOWN Japanese Consortium for Amyotrophic Lateral Sclerosis research (JaCALS)
Jul 23, 2013·Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration·Rong LiuDongsheng Fan
Apr 10, 2014·Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration·Yan MaDongsheng Fan
Feb 25, 2015·Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration·Yi YangDongsheng Fan
Mar 6, 2015·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Sue RichardsUNKNOWN ACMG Laboratory Quality Assurance Committee
Jul 1, 2015·Journal of Neurology, Neurosurgery, and Psychiatry·Lu ChenDongsheng Fan
Oct 16, 2015·Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration·Jiao LiDongsheng Fan
Oct 28, 2015·Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration·Chengyu LiDongsheng Fan
Apr 16, 2016·Nature Communications·Kelly L WilliamsIan P Blair
Mar 11, 2017·Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration·Chuzheng PanLu Shen
Aug 31, 2017·Cellular and Molecular Life Sciences : CMLS·Albert LeeRoger S Chung

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Methods Mentioned

BETA
ubiquitination
PCR
Exome Sequencing
protein folding

Software Mentioned

Primer Premier
SIFT
PolyPhen

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