Molecular basis of mucopolysaccharidosis IVA (Morquio A syndrome): A review and classification of GALNS gene variants and reporting of 68 novel variants-Reference-Cited by-同舟云学术

Molecular basis of mucopolysaccharidosis IVA (Morquio A syndrome): A review and classification of GALNS gene variants and reporting of 68 novel variants

Published:2021-08-23 Issue:11 Volume:42 Page:1384-1398
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Zanetti Alessandra¹²^ORCID,D'Avanzo Francesca¹²^ORCID,AlSayed Moeenaldeen³^ORCID,Brusius‐Facchin Ana Carolina⁴^ORCID,Chien Yin‐Hsiu⁵^ORCID,Giugliani Roberto⁶^ORCID,Izzo Emanuela⁷^ORCID,Kasper David C.⁸,Lin Hsiang‐Yu⁹^ORCID,Lin Shuan‐Pei⁹^ORCID,Pollard Laura¹⁰,Singh Akashdeep⁷^ORCID,Tonin Rodolfo¹¹¹²^ORCID,Wood Tim¹⁰,Morrone Amelia¹¹¹²^ORCID,Tomanin Rosella¹²^ORCID

Affiliation:

1. Laboratory of Diagnosis and Therapy of Lysosomal Disorders, Department of Women's and Children's Health University of Padova Padova Italy

2. Fondazione Istituto di Ricerca Pediatrica Città della Speranza Padova Italy

3. King Faisal Specialist Hospital and Research Centre, Faculty of Medicine Alfaisal University Riyadh Saudi Arabia

4. Medical Genetics Service/HCPA, DR BRASIL Research Group/HCPA, and INAGEMP Porto Alegre Brazil

5. Department of Medical Genetics and Pediatrics National Taiwan University Hospital Taipei Taiwan

6. Department of Genetics/UFRGS Medical Genetics Service/HCPA, DR BRASIL Research Group/HCPA, and INAGEMP Porto Alegre Brazil

7. BioMarin Pharmaceutical Inc. Novato California USA

8. ARCHIMED Life Science GmbH Vienna Austria

9. Division of Genetics and Metabolism, Departments of Pediatrics and Medical Research MacKay Memorial Hospital Taipei Taiwan

10. Biochemical Diagnostic Laboratory Greenwood Genetic Center Greenwood South Carolina USA

11. Molecular and Cell Biology Laboratory, Pediatric Neurology Unit and Laboratories Meyer Children's Hospital Florence Italy

12. Department of Neurosciences, Psychology, Pharmacology and Child Health University of Florence Florence Italy

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.24270

Reference53 articles.

1. Recommendations for the management of MPS IVA: systematic evidence- and consensus-based guidance

2. GALNSmutations in Indian patients with mucopolysaccharidosis IVA

3. Spectrum of GALNS mutations and haplotype study in Brazilian patients with Mucopolysaccharidosis type IVA

4. Identification of 31 novel mutations in the N-acetylgalactosamine-6-sulfatase gene reveals excessive allelic heterogeneity among patients with Morquio A syndrome

5. Mis-splicing of the GALNS gene resulting from deep intronic mutations as a cause of Morquio a disease

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