REPORT OF A NOVEL MUTATION IN Α-L-IDURONIDASE (IDUA) IN AN IRANIAN FAMILY WITH HURLER SYNDROME (MUCOPOLYSACCHARIDOSIS I)

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SALEHI R.

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Journal: IRANIAN JOURNAL OF BIOLOGY Year:2004 | Volume:17 | Issue:1 Page(s): 80-88

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Title

REPORT OF A NOVEL MUTATION IN Α-L-IDURONIDASE (IDUA) IN AN IRANIAN FAMILY WITH HURLER SYNDROME (MUCOPOLYSACCHARIDOSIS I)

Author(s)

SALEHI R. | Issue Writer Certificate

Keywords

HURLER SYNDROMEQ4

IDUA GENEQ4

MUCOPOLYSACCHARIDOSISQ4

Abstract

Mucopolysaccharidosis I (MPS I) is a lysosomal storage disease that caused by deficiency of α-L-iduronidase (IDUA) enzyme. This enzyme involved in the degradation of glycosaminoglyans or mucopolysaccharides, dermatan sulphate and heparan sulphate. From clinical point of view the disease subdivided in to three categories with the most severe form known as HURLER SYNDROME and the mild one called Scheie syndrome. A fine correlation of genotype phenotype has been observed in this disease. Progressive mental retardation, hepatosplenomegaly, skeletal abnormalities are the common symptoms of severe form of the disease. Inheritance of the disease follows the autosomal recessive pattern. The present study performed on a family with a suspected child for MPSI. Initially by using enzyme activity assay, the HURLER SYNDROME was verified and then through PCR amplification of all 14 exons of the gene, SSCP and sequencing the mutation underlying the disease phenotype was detected. The mutation turned to be L132R, which has not been reported so far.

Cites

MOLECULAR DETECTION AND IDENTIFICATION OF ALFA- L-IDURONIDASE GENE MUTATIONSJN 5 IRANIAN FAMILIES SUSPECTED FOR MULLER SYNDROME (MUCOPOLYSACCHARIDOSIS I)

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APA: Copy

SALEHI, R.. (2004). REPORT OF A NOVEL MUTATION IN Α-L-IDURONIDASE (IDUA) IN AN IRANIAN FAMILY WITH HURLER SYNDROME (MUCOPOLYSACCHARIDOSIS I) . IRANIAN JOURNAL OF BIOLOGY, 17(1), 80-88. SID. https://sid.ir/paper/21498/en

Vancouver: Copy

SALEHI R.. REPORT OF A NOVEL MUTATION IN Α-L-IDURONIDASE (IDUA) IN AN IRANIAN FAMILY WITH HURLER SYNDROME (MUCOPOLYSACCHARIDOSIS I) . IRANIAN JOURNAL OF BIOLOGY[Internet]. 2004;17(1):80-88. Available from: https://sid.ir/paper/21498/en

IEEE: Copy

R. SALEHI, “REPORT OF A NOVEL MUTATION IN Α-L-IDURONIDASE (IDUA) IN AN IRANIAN FAMILY WITH HURLER SYNDROME (MUCOPOLYSACCHARIDOSIS I) ,” IRANIAN JOURNAL OF BIOLOGY, vol. 17, no. 1, pp. 80–88, 2004, [Online]. Available: https://sid.ir/paper/21498/en

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