Identification and characterization of novel and rare susceptible variants in Indian amyotrophic lateral sclerosis patients

Rare missense variants play a crucial role in amyotrophic lateral sclerosis (ALS) pathophysiology. We report rare/novel missense variants from 154 Indian ALS patients, identified through targeted sequencing of 25 ALS-associated genes. As pathogenic variants could explain only a small percentage of A...

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Bibliographic Details
Published in:Neurogenetics 2019-10, Vol.20 (4), p.197-208
Main Authors: Narain, Priyam, Padhi, Aditya K., Dave, Upma, Mishra, Dibyakanti, Bhatia, Rohit, Vivekanandan, Perumal, Gomes, James
Format: Article
Language:English
Subjects:
Amyotrophic lateral sclerosis
Angiogenin
Biomedical and Life Sciences
Biomedicine
ErbB-2 protein
Human Genetics
Molecular Medicine
Neurosciences
Nuclear transport
Original Article
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Summary:Rare missense variants play a crucial role in amyotrophic lateral sclerosis (ALS) pathophysiology. We report rare/novel missense variants from 154 Indian ALS patients, identified through targeted sequencing of 25 ALS-associated genes. As pathogenic variants could explain only a small percentage of ALS pathophysiology in our cohort, we investigated the frequency of tolerated and benign novel/rare variants, which could be potentially ALS susceptible. These variants were identified in 5.36% (8/149) of sporadic ALS (sALS) cases; with one novel variant each in ERBB4 , SETX , DCTN1 , and MATR3 ; four rare variants, one each in PON2 and ANG and two different rare variants in SETX . Identified variants were either absent or present at extremely rare frequencies (MAF 
ISSN:1364-6745
1364-6753
DOI:10.1007/s10048-019-00584-3