Mutation analysis and clinical characterization of Iranian patients with mucopolysaccharidosis type I

Taghikhani, M. and Khatami, S. and Abdi, M. and Hakhamaneshi, M. S. and Alaei, M. R. and Zamanfar, D. and Vakili, R. (2019) Mutation analysis and clinical characterization of Iranian patients with mucopolysaccharidosis type I. Journal of Clinical Laboratory Analysis, 33 (8).

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Background: Mucopolysaccharidosis type I (MPSI) is a rare autosomal recessive disorder caused by a deficiency of α-l-iduronidase (IDUA) encoded by the IDUA gene. We examined the mutation spectrum of the IDUA gene to explain the clinical, biochemical, and molecular features in 21 Iranian patients with MPSI. Methods: Sanger sequencing was used to measure the IDUA gene sequence in the coding region and exon-intron boundaries. We recorded the clinical findings of studied patients at the first diagnosis of disease and then during the treatment and follow-up. Results: Five different missense disease-causing mutations were determined in our patient groups, indicating 90.48 of detection rate. The most widespread mutation was the p.Y109H, occurring in 15.625 of all alleles, which was reported for the first time in our study. Other frequent mutations were as follows: p.Ser157Pro (12.5), p.Gly84Arg (12.5), p.Asp257His (9.375), and p.Asp301Glu (9.375). Three ones of them were new missense mutations: p.Ser157Pro, p.Asp257His, and p.Asp301Glu. Discussion: The results of this study explain the different spectrum of IDUA gene mutations in our patients with MPSI. We introduced here 32 different variants including four new variants: p.Y109H (15.625), p.S157P (12.5), p.D257H (9.375), and p.D301E (9.375). In this series, there was no relationship between the happening of clinical features and genotype variations and biochemical findings. © 2019 The Authors. Journal of Clinical Laboratory Analysis Published by Wiley Periodicals, Inc.

Item Type: Article
Additional Information: Export Date: 16 February 2020 CODEN: JCANE Correspondence Address: Khatami, S.; Department of Biochemistry, Pasteur Institute of IranIran; email:
Uncontrolled Keywords: IDUA Iranian population mucopolysaccharidosis type I mutation analysis arginine asparagine genomic DNA glucose glycine laronidase levo iduronidase proline serine adolescent allele Article child clinical article clinical feature cognition controlled study enzyme replacement exon female gene gene sequence genetic code genotype human Hurler syndrome IDUA gene intron Iranian people male missense mutation mutational analysis Sanger sequencing
Subjects: WK Endocrine System
Divisions: Mashhad University of Medical Sciences
Depositing User: mr lib1 lib1
Date Deposited: 27 Jun 2020 05:43
Last Modified: 27 Jun 2020 05:43

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