A novel mutation in ALS2 associated with severe and progressive infantile onset of spastic paralysis

Journal of Neurogenetics
Huma TariqSadaf Naz

Abstract

Infantile onset ascending spastic paralysis (IAHSP) is a type of recessively inherited spastic paraplegia. We investigated the clinical and genetic cause of a recessively inherited disorder in two siblings manifesting severe spasticity in the lower limbs which hindered their gait. A novel homozygous nonsense mutation c.1918 C > T (p.Arg640*) was identified after whole-exome sequencing within ALS2 in the DNA of both patients. The obligate carriers were heterozygous for the mutation and other unaffected members were homozygous for the wild type allele. The variant was absent from 100 control chromosomes and all public databases. This report extends the allelic heterogeneity of ALS2 mutations and emphasizes the importance of genetic testing for diagnosis of pediatric disorders.

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Citations

May 31, 2018·Current Opinion in Neurology·Livia ParodiAlexandra Durr
Aug 22, 2018·Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology·Mayada HelalReza Maroofian
Jan 8, 2021·Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology·Enrique NogueiraCecilia Paredes
Nov 7, 2020·American Journal of Medical Genetics. Part a·Rosanne SpruteSebahattin Cirak
Feb 20, 2021·Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration·Vincenzo SilaniNicola Ticozzi
Nov 6, 2021·Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration·Alzira Alves De Siqueira CarvalhoPaulo Victor Sgobbi De Souza

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