Novel missense mutation in the GALNS gene in an affected patient with severe form of mucopolysaccharidosis type IVA.

Abstract

Mucopolysaccharidosis type IVA (MPS IVA), also known as Morquio A, is an autosomal recessive disorder characterized by a deficiency of N-acetylgalactosamine-6-sulfate sulfatase (GALNS), which causes major skeletal and connective tissue abnormalities and affects multiple organ systems. In this study, one MPS IVA patient with a severe form from consanguine large Iranian family has been investigated. To find a mutation, all of the 14 exons and intron-exon junctions of GALNS gene were sequenced. Sequencing results were analyzed using bioinformatic analysis in order to predict probable pathogenic effect of the variant. One novel homozygous missense mutation in exon 5, c.542A>G (p.Y181C), was found in the proband. That was predicted as being probably pathogenic by bioinformatics analysis. Segregation and familial study confirmed this pathogenic mutation. In conclusion, we have identified the novel mutation responsible for MPS IVA in an Iranian patient to assist in the diagnosis, genetic counseling and prenatal diagnosis of the affected families.

• Authors: Seyed Mohammad Seyedhassani, Feyzollah Hashemi-Gorji, Mahdieh Yavari, Reza Mirfakhraie
• Journal: Clinica chimica acta; international journal of clinical chemistry (Clin Chim Acta) Vol. 450 Pg. 121-4 (Oct 23 2015) ISSN: 1873-3492 [Electronic] Netherlands
• PMID: 26276046 (Publication Type: Case Reports, Journal Article)
• Copyright: Copyright © 2015 Elsevier B.V. All rights reserved.

Chemical References

• Chondroitinsulfatases
• GALNS protein, human

Topics

• Adolescent
• Adult
• Amino Acid Sequence
• Child
• Chondroitinsulfatases (chemistry, genetics)
• Female
• Humans
• Male
• Models, Molecular
• Molecular Sequence Data
• Mucopolysaccharidosis IV (enzymology, genetics)
• Mutation, Missense
• Pedigree
• Phenotype
• Protein Conformation