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Mutation analysis and clinical characterization of Iranian patients with mucopolysaccharidosis type I.
Taghikhani, Mohammad; Khatami, Shohreh; Abdi, Mohammad; Hakhamaneshi, Mohammad Said; Alaei, Mohammad Reza; Zamanfar, Daniel; Vakili, Rahim.
Afiliación
  • Taghikhani M; Department of Clinical Biochemistry, Faculty of Medical Sciences, Tarbiat Modares University, Tehran, Iran.
  • Khatami S; Department of Biochemistry, Pasteur Institute of Iran, Tehran, Iran.
  • Abdi M; Cellular and Molecular Research Center, Research Institute for Health Development, Kurdistan University of Medical Sciences, Sanandaj, Iran.
  • Hakhamaneshi MS; Department of Clinical Biochemistry, Faculty of Medicine, Kurdistan University of Medical Sciences, Sanandaj, Iran.
  • Alaei MR; Department of Clinical Biochemistry, Faculty of Medicine, Kurdistan University of Medical Sciences, Sanandaj, Iran.
  • Zamanfar D; Department of Pediatric, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
  • Vakili R; Department of Pediatric, Faculty of Medicine, Mazandaran University of Medical Sciences, Sari, Iran.
J Clin Lab Anal ; 33(8): e22963, 2019 Oct.
Article en En | MEDLINE | ID: mdl-31386236
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.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Biomarcadores / Mucopolisacaridosis I / Mutación Missense / Iduronidasa Tipo de estudio: Observational_studies / Prognostic_studies Límite: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: J Clin Lab Anal Asunto de la revista: TECNICAS E PROCEDIMENTOS DE LABORATORIO Año: 2019 Tipo del documento: Article País de afiliación: Irán Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Biomarcadores / Mucopolisacaridosis I / Mutación Missense / Iduronidasa Tipo de estudio: Observational_studies / Prognostic_studies Límite: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: J Clin Lab Anal Asunto de la revista: TECNICAS E PROCEDIMENTOS DE LABORATORIO Año: 2019 Tipo del documento: Article País de afiliación: Irán Pais de publicación: Estados Unidos