Four novel mutations in patients from the Middle East with the infantile form of GM1-gangliosidosis

Human Mutation
Theodoros GeorgiouA d'Azzo

Abstract

GM1-gangliosidosis is a lysosomal storage disorder caused by a deficiency of beta-galactosidase. It is mainly characterized by progressive neurodegeneration and in its most severe infantile form it leads to death before the age of four. We have performed molecular analysis of five patients with the infantile form of GM1-gangliosidosis originating from the Middle East (two from Saudi Arabia and three from the United Arab Emirates). We have identified four novel mutations and one previously reported mutation in the GLB1 gene. The first novel mutation found in the homoallelic state in a patient from Saudi Arabia, is a c.171C>G transversion in exon 2 which creates a premature stop codon. Northern blot analysis in fibroblasts from the patient showed no mRNA and expression studies in COS-1 cells showed complete absence of the 85kDa precursor protein and no catalytic activity. The second novel mutation is a splicing error in intron 2, c.245+1G>A. This mutation was found in the heteroallelic state in a patient from Saudi Arabia, the second mutation being the previously described c.145C>T mutation. The third novel mutation is a missense mutation in exon 4, c.451G>T, found in the homoallelic state in a patient from the United Arab Emirat...Continue Reading

Citations

Jan 7, 2006·Cell Death and Differentiation·A d'AzzoR Sano
Nov 24, 2011·Genetic Testing and Molecular Biomarkers·Imen Ben-RebehBassam R Ali
Jun 6, 2008·Molecular Genetics and Metabolism·Nicola Brunetti-Pierri, Fernando Scaglia
Mar 8, 2005·Clinica Chimica Acta; International Journal of Clinical Chemistry·Renata SanoJanice C Coelho
May 6, 2015·Gene·Abdul Mueed BidcholKatta Mohan Girisha
Jan 11, 2008·Journal of Child Neurology·Nicola Brunetti-PierriFernando Scaglia

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