Mucopolysaccharidosis type II (MPSII) is an X-linked lysosomal storage disorder caused by deficiency of the enzyme iduronate-2-sulfatase (IDS). The human gene is located in chromosome Xq28. This is the first report of genotype and phenotype characterization of 49 Hunter patients from 40 families of Argentina. Thirty different alleles have been identified, and 57% were novel. The frequency of de novo mutations was 10%. Overall, the percentage of private mutations in our series was 75%.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5121352 | PMC |
| http://dx.doi.org/10.1016/j.ymgmr.2014.08.006 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Epidemiology of Mucopolysaccharidosis Type II According to the Register of the Russian Federation.
Turk Arch Pediatr
January 2025
Federal State Budgetary Scientific Institution, Research Center for Medical Genetics, Moscow, Russia.
Objective: The study aimed to evaluate the epidemiological, clinical, and molecular data of mucopolysaccharidosis type II (MPS II) patients and their outcomes using the national registry of patients in the Russian Federation (RF). Materials and Methods: In the retrospective cohort study, the authors included data from the Russian national registry of MPS II. Results: The prevalence of MPS II in RF is 0.
View Article and Find Full Text PDFMulti-omics analyses of early-onset familial Alzheimer's disease and Sanfilippo syndrome zebrafish models reveal commonalities in disease mechanisms.
Biochim Biophys Acta Mol Basis Dis
January 2025
Alzheimer's Disease Genetics Laboratory, School of Molecular and Biomedical Sciences, Faculty of Sciences, Engineering and Technology, The University of Adelaide, North Terrace Campus, Adelaide, SA 5005, Australia.
Sanfilippo syndrome (mucopolysaccharidosis type III, MPSIII) causes childhood dementia, while Alzheimer's disease is the most common type of adult-onset dementia. There is no cure for either of these diseases, and therapeutic options are extremely limited. Increasing evidence suggests commonalities in the pathogenesis of these diseases.
View Article and Find Full Text PDFHuman induced pluripotent stem cell line (PNUSCRi005-A) generated from severe type of Hunter syndrome patient carrying exonic deletion (exon 4-7 del) in in human iduronate 2-sulfatase gene.
Stem Cell Res
December 2024
Division of Medical Genetics and Metabolism, Department of Pediatrics, Pusan National University School of Medicine, Pusan National University Children's Hospital, Yangsan 50612, Gyeongsangnam-do, Republic of Korea. Electronic address:
Mucopolysaccharidosis Type Ⅱ, as Known as Hunter syndrome, is a rare X-liked genetic disease caused by mutations in iduronate-2-sulfatase (IDS) gene. We obtained peripheral blood mononuclear cells (PBMCs) from a patient with a severe type of Hunter syndrome carrying c.418 + 495_1006 + 1304 deletion in the IDS gene.
View Article and Find Full Text PDFCharacterization of patients treated at a rare disease referral service: a descriptive study, 2016-2021.
Epidemiol Serv Saude
January 2025
Universidade Positivo, Departamento de Medicina, Curitiba, PR, Brazil.
Objective: To analyze the first referral service for rare diseases accredited by the Brazilian Ministry of Health, focusing on referral from the primary healthcare network through to diagnosis.
Methods: This is a descriptive study with patients treated between 2016 and 2021 at a referral hospital service located in Curitiba, Paraná, Brazil. Clinical and epidemiological data were obtained from medical records, as were the results of genetic tests at the hospital's clinical analysis laboratory.
The Role of Gene Expression Dysregulation in the Pathogenesis of Mucopolysaccharidosis: A Comparative Analysis of Shared and Specific Molecular Markers in Neuronopathic and Non-Neuronopathic Types of the Disease.
Int J Mol Sci
December 2024
Department of Molecular Biology, Faculty of Biology, University of Gdansk, Wita Stwosza 59, 80-308 Gdansk, Poland.
Mucopolysaccharidosis (MPS) comprises a group of inherited metabolic diseases. Each MPS type is caused by a deficiency in the activity of one kind of enzymes involved in glycosaminoglycan (GAG) degradation, resulting from the presence of pathogenic variant(s) of the corresponding gene. All types/subtypes of MPS, which are classified on the basis of all kinds of defective enzymes and accumulated GAG(s), are severe diseases.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!