Four novel mutations in the Î²-galactosidase gene identified in infantile type of GM1 gangliosidosis.

[gm1 gangliosidosis]

The aim of this study is to find out mutations of Turkish GM 1 gangliosidosis patients and to make genotype-phenotype correlations .Î²-galactosidase activities were measured by using fluorometric substrate . Mutation screening of 16 exons of Î²-galactosidase gene and mutation detection were done by PCR-SSCP and DNA sequencing , respectively .Four new mutations , c .188 _189 insT in exon 2 , c .569 _570 insA in exon 6 , p .K 142 Q in exon 4 , p .G 190 D in exon 6 , and one known mutation p .P 549 L in exon 15 , were identified in the Î²-galactosidase gene in 5 Turkish patients . Mutations in exons 4 and 6 are in the active site and mutation in exon is in the galactose-binding domain of the Î²-galactosidase gene .T his is the first mutational analysis performed in Turkish GM 1 gangliosidosis patients and shows the molecular heterogeneity of the disease in Turkish population . All identified mutations result in severe enzyme deficiency and infantile phenotype .

Diseases
Validation

Diseases presenting "infantile phenotype" symptom

gm1 gangliosidosis

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