A Novel Frameshift Mutation Associated with Hurler's Syndrome: A Case Report

Overview

Journal J Pediatr Genet

Publisher Thieme

Specialty Pediatrics

Date 2019 Nov 6

PMID 31687259

Authors

Mana Kamranjam

Seyedeh Maryam Hosseini

Mohammadreza Alaei

Affiliations

Soon will be listed here.

Abstract

Mucopolysaccharidosis 1 (MPS1) is a rare inherited lysosomal storage disorder resulting from the absence or reduction of lysosomal alpha-l-iduronidase due to mutations in the gene. Three major clinical manifestations have been established including Hurler's or severe type (OMIM 607914), Hurler-Scheie or intermediate type (MIM 607914) and Scheie's or attenuated type (MIM 607016). In the present study, a patient whose disease was diagnosed by biochemical and enzymatic assay was studied in our laboratory. Molecular analysis implemented by PCR-sequencing of all 14 exons and exon-intron junctions confirmed a novel deleterious mutation in a homozygous state. The result of this study has broadened the genotypic spectrum of MPS1 patients, assisting in a more effective approach for carrier testing and counseling.

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