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Four Novel Mutations In Patients From The Middle East With The Infantile Form Of GM1‐gangliosidosis

T. Georgiou, A. Drousiotou, Y. Campos, A. Caciotti, L. Sztriha, A. Gururaj, P. Ozand, E. Zammarchi, A. Morrone, A. D'azzo
Published 2004 · Biology, Medicine

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GM1‐gangliosidosis is a lysosomal storage disorder caused by a deficiency of β‐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 Emirates. Expression studies of this mutation in COS‐1 cells showed complete absence of the 85kDa precursor protein and no catalytic activity. The fourth novel mutation is a splicing mutation in intron 8, c.914+4A>G, found in the homoallelic state in two siblings from the United Arab Emirates. This study has revealed genetic heterogeneity of the â‐galactosidase deficiency in the Arabic population. © 2004 Wiley‐Liss, Inc.
This paper references
10.1002/(SICI)1098-1004(200001)15:1<7::AID-HUMU4>3.0.CO;2-N
Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion
J. T. Dunnen (2000)
10.1002/(SICI)1098-1004(200004)15:4<354::AID-HUMU8>3.0.CO;2-L
β‐galactosidase gene mutations affecting the lysosomal enzyme and the elastin‐binding protein in GM1‐gangliosidosis patients with cardiac involvement
A. Morrone (2000)
10.1007/s00439-003-0930-8
Modulating action of the new polymorphism L436F detected in the GLB1 gene of a type-II GM1 gangliosidosis patient
A. Caciotti (2003)
10.1002/(SICI)1098-1004(1999)13:5<401::AID-HUMU9>3.0.CO;2-N
Six novel β‐galactosidase gene mutations in Brazilian patients with GM1‐gangliosidosis
C. M. Silva (1999)
Alternative splicing of beta-galactosidase mRNA generates the classic lysosomal enzyme and a beta-galactosidase-related protein.
H. Morreau (1989)
10.1016/S0006-291X(88)80108-6
GMl-gangliosidosis: Abnormalities in biosynthesis and early processing of β-galactosidase in fibroblasts
E. Nanba (1988)
10.1016/b978-0-12-547150-3.50015-3
A Laboratory manual
M. Ashburner (1989)
10.1093/nar/16.15.7351
A general method of in vitro preparation and specific mutagenesis of DNA fragments: study of protein and DNA interactions.
R. Higuchi (1988)
10.1146/annurev.bi.55.070186.005351
Splicing of messenger RNA precursors.
P. Sharp (1985)
10.1073/pnas.79.15.4535
Molecular defect in combined beta-galactosidase and neuraminidase deficiency in man.
A. D'azzo (1982)
Molecular Cloning: A Laboratory Manual
J. Sambrook (1983)
10.1074/jbc.273.11.6319
The 67-kDa Enzymatically Inactive Alternatively Spliced Variant of β-Galactosidase Is Identical to the Elastin/Laminin-binding Protein*
S. Privitera (1998)
10.1016/S0006-291X(88)80038-X
Cloning, sequencing, and expression of cDNA for human -galactosidase
A. Oshima (1988)



This paper is referenced by
10.1038/sj.cdd.4401834
Gangliosides as apoptotic signals in ER stress response
A. d'Azzo (2006)
10.1016/j.gene.2015.04.078
Recurrent and novel GLB1 mutations in India.
Abdul Mueed Bidchol (2015)
10.1016/j.ymgme.2008.04.012
GM1 gangliosidosis: review of clinical, molecular, and therapeutic aspects.
N. Brunetti-Pierri (2008)
10.1016/J.CCCN.2004.11.035
GM1-ganglioside degradation and biosynthesis in human and murine GM1-gangliosidosis
R. Sano (2005)
10.1111/j.1399-0004.2010.01379.x
Phenotype determining alleles in GM1 gangliosidosis patients bearing novel GLB1 mutations
D. Hofer (2010)
10.1177/0883073807307088
Brain Proton Magnetic Resonance Spectroscopy and Neuromuscular Pathology in a Patient With GM1 Gangliosidosis
N. Brunetti-Pierri (2008)
10.1089/gtmb.2011.0175
Identification of mutations underlying 20 inborn errors of metabolism in the United Arab Emirates population.
Imen Ben-Rebeh (2012)
10.1007/8904_2012_182
Prevalence and Novel Mutations of Lysosomal Storage Disorders in United Arab Emirates : LSD in UAE.
Fatma Al-Jasmi (2013)
10.2340/00015555-0022
Dermal melanocytosis associated with GM1-gangliosidosis type 1.
L. D. Bloch (2006)
10.1007/978-0-387-70909-3_15
The GM1 Gangliosidoses
Gustavo A. Charria-Ortiz (2007)
10.1002/humu.21232
Mutations of a country: a mutation review of single gene disorders in the United Arab Emirates (UAE)
L. Al-Gazali (2010)
10.1007/978-3-642-05080-0_22
Genetic Disorders in the United Arab Emirates
Lihadh Al-Gazali (2010)
10.1002/HUMU.9475
GM1 gangliosidosis: molecular analysis of nine patients and development of an RT‐PCR assay for GLB1 gene expression profiling
A. Caciotti (2007)
10.1089/GTE.2005.9.126
The Arg482His mutation in the beta-galactosidase gene is responsible for a high frequency of GM1 gangliosidosis carriers in a Cypriot village.
T. Georgiou (2005)
New and known mutations associated with inborn errors of metabolism in a heterogeneous Middle Eastern population.
B. Ali (2011)
10.1007/s00439-020-02153-3
The pharmacological chaperone N-n-butyl-deoxygalactonojirimycin enhances β-galactosidase processing and activity in fibroblasts of a patient with infantile GM1-gangliosidosis
Fedah E. Mohamed (2020)
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