Morquio A syndrome due to Maternal Uniparental Isodisomy of the telomeric end of chromosome 16

S. Catarzi, L. Giunti, F. Papadia, O. Gabrielli, R. Guerrini, M. A. Donati, M. Genuardi, A. Morrone

Research output: Contribution to journalArticlepeer-review


Morquio A syndrome (MPS IVA) is a recessive lysosomal storage disorder (LSD) caused by mutations in the GALNS gene leading to the deficiency of lysosomal enzyme N-acetylgalactosamine-6-sulfate sulfatase (GALNS). Patients show a broad spectrum of phenotypes ranging from classical severe type to mild forms. Classical forms are characterized by severe bone dysplasia and usually normal intelligence. So far, more than 170 unique mutations have been identified in the GALNS gene of MPS IVA patients.We report on a Morquio A patient with a classical phenotype who was found to be homozygous for a missense mutation (c.236. G. >. A; p.Cys79Tyr) in the GALNS gene. This alteration affects the highly conserved p.Cys79 that is transformed into formylglycine, the catalytic residue of the active site. The mutation was present in the proband's mother, but not in the father, whose paternity was confirmed by microsatellite analysis. In order to test the hypothesis of maternal uniparental disomy (UPD), we investigated the segregation of sixteen microsatellite markers from chromosome 16. The results showed a condition of maternal UPD due to an error in meiosis I. Maternal isodisomy of the 16q24 region led to homozygosity for the GALNS mutant allele, causing the patient's disease. These findings allow to add for the first time the LSD Morquio A syndrome to the list of conditions that can be caused by UPD. The possibility of UPD is relevant when giving genetic counseling to couples since the recurrent risk in future pregnancies is dramatically reduced.

Original languageEnglish
Pages (from-to)438-442
Number of pages5
JournalMolecular Genetics and Metabolism
Issue number3
Publication statusPublished - Mar 2012


  • Chromosome 16
  • Morquio A syndrome
  • Uniparental disomy
  • UPD

ASJC Scopus subject areas

  • Biochemistry
  • Molecular Biology
  • Genetics
  • Endocrinology
  • Endocrinology, Diabetes and Metabolism


Dive into the research topics of 'Morquio A syndrome due to Maternal Uniparental Isodisomy of the telomeric end of chromosome 16'. Together they form a unique fingerprint.

Cite this