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

Başak Çeltikçi; Halil Ibrahim Aydin; Serap Sivri; Müjgan Sönmez; Meral Topçu; Hatice Asuman Özkara

doi:10.1016/j.clinbiochem.2011.12.019

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

Başak Çeltikçi, Halil Ibrahim Aydin, Serap Sivri, Müjgan Sönmez, Meral Topçu, Hatice Asuman Özkara

Research output: Contribution to journal › Article › peer-review

8 Scopus citations

Abstract

Objectives: The aim of this study is to find out mutations of Turkish GM1 gangliosidosis patients and to make genotype-phenotype correlations. Design and methods: β-galactosidase activities were measured by using fluorometric substrate. Mutation screening of 16 exons of β-galactosidase gene and mutation detection were done by PCR-SSCP and DNA sequencing, respectively. Results: Four new mutations, c.188_189insT in exon 2, c.569_570insA in exon 6, p.K142Q in exon 4, p.G190D in exon 6, and one known mutation p.P549L in exon 15, were identified in the β-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 β-galactosidase gene. Conclusion: This is the first mutational analysis performed in Turkish GM1 gangliosidosis patients and shows the molecular heterogeneity of the disease in Turkish population. All identified mutations result in severe enzyme deficiency and infantile phenotype.

Original language	English (US)
Pages (from-to)	571-574
Number of pages	4
Journal	Clinical Biochemistry
Volume	45
Issue number	7-8
DOIs	https://doi.org/10.1016/j.clinbiochem.2011.12.019
State	Published - May 2012
Externally published	Yes

Bibliographical note

Funding Information:
This study was supported by Hacettepe University Scientific Research and Development Office . Research project number: 0701101014 . Authors thank Andrew Phillips, Research Fellow at the Human Gene Mutation Database of the Institute of Medical Genetics at Cardiff University, for calling attention the true numbering of the mutations and crucial corrections.

Keywords

GLB1 gene
GM1 gangliosidosis
Glycosphingolipidosis
Insertion mutation
Lysosomal β-galactosidase
Missense mutation

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title = "Four novel mutations in the β-galactosidase gene identified in infantile type of GM1 gangliosidosis",

abstract = "Objectives: The aim of this study is to find out mutations of Turkish GM1 gangliosidosis patients and to make genotype-phenotype correlations. Design and methods: β-galactosidase activities were measured by using fluorometric substrate. Mutation screening of 16 exons of β-galactosidase gene and mutation detection were done by PCR-SSCP and DNA sequencing, respectively. Results: Four new mutations, c.188_189insT in exon 2, c.569_570insA in exon 6, p.K142Q in exon 4, p.G190D in exon 6, and one known mutation p.P549L in exon 15, were identified in the β-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 β-galactosidase gene. Conclusion: This is the first mutational analysis performed in Turkish GM1 gangliosidosis patients and shows the molecular heterogeneity of the disease in Turkish population. All identified mutations result in severe enzyme deficiency and infantile phenotype.",

keywords = "GLB1 gene, GM1 gangliosidosis, Glycosphingolipidosis, Insertion mutation, Lysosomal β-galactosidase, Missense mutation",

author = "Ba{\c s}ak {\c C}eltik{\c c}i and Aydin, {Halil Ibrahim} and Serap Sivri and M{\"u}jgan S{\"o}nmez and Meral Top{\c c}u and {\"O}zkara, {Hatice Asuman}",

note = "Funding Information: This study was supported by Hacettepe University Scientific Research and Development Office . Research project number: 0701101014 . Authors thank Andrew Phillips, Research Fellow at the Human Gene Mutation Database of the Institute of Medical Genetics at Cardiff University, for calling attention the true numbering of the mutations and crucial corrections.",

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AU - Çeltikçi, Başak

AU - Aydin, Halil Ibrahim

AU - Sivri, Serap

AU - Sönmez, Müjgan

AU - Topçu, Meral

AU - Özkara, Hatice Asuman

N1 - Funding Information: This study was supported by Hacettepe University Scientific Research and Development Office . Research project number: 0701101014 . Authors thank Andrew Phillips, Research Fellow at the Human Gene Mutation Database of the Institute of Medical Genetics at Cardiff University, for calling attention the true numbering of the mutations and crucial corrections.

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N2 - Objectives: The aim of this study is to find out mutations of Turkish GM1 gangliosidosis patients and to make genotype-phenotype correlations. Design and methods: β-galactosidase activities were measured by using fluorometric substrate. Mutation screening of 16 exons of β-galactosidase gene and mutation detection were done by PCR-SSCP and DNA sequencing, respectively. Results: Four new mutations, c.188_189insT in exon 2, c.569_570insA in exon 6, p.K142Q in exon 4, p.G190D in exon 6, and one known mutation p.P549L in exon 15, were identified in the β-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 β-galactosidase gene. Conclusion: This is the first mutational analysis performed in Turkish GM1 gangliosidosis patients and shows the molecular heterogeneity of the disease in Turkish population. All identified mutations result in severe enzyme deficiency and infantile phenotype.

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KW - Glycosphingolipidosis

KW - Insertion mutation

KW - Lysosomal β-galactosidase

KW - Missense mutation

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

Abstract

Bibliographical note

Keywords

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