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Clinical and Molecular Characterization of Mucopolysaccharidosis Type 3A and 3B in a Turkish Series
Bilge Noyan1,2, Nursel H Elcioglu1,3, Abdellah Tebani4
1Department of Pediatric Genetics, Marmara University Medical School, Istanbul, Turkey.
Introduction:
Sanfilippo syndrome or mucopolysaccharidosis type 3 (MPS-3) is a rare condition and its epidemiological data are still not defined. MPS-3 is linked to a deficiency in enzymes involved in heparan sulfate degradation. This biomolecule is neurotoxic and its accumulation underlies the severe central nervous system degeneration observed in this disease.
Methods:
Here, we describe 15 Turkish patients with MPS-3A or MPS-3B subtypes. Clinical data upon the diagnosis and during the follow-up as well as molecular characterization are reported.
Results:
Two and ten distinct variants were identified in SGSH and NAGLU gene sequences, respectively. Six variants (NAGLU NM_000263.3:c.532-?_c.764+?del, NAGLU NM_000263.3: c.509G>T, NAGLU NM_000263.3: c.700C>G, NAGLU NM_000263.3:c.507_516 del, NAGLU NM dises_000263.3: c.1354 G>A, NAGLU NM_000263.3: c.200T>C) have been previously published and 6 are novel (SGSH NM_000199.4: c.80T>G, SGSH NM_000199.4: c.7_16del, NAGLU NM_000263.3: c.224_235del, NAGLU NM_000263.3: c.904G>T, NAGLU NM_000263.3: c.626C>T, NAGLU NM_000263.3: c.1241A>G). SGSH NM_000199.4:c.7_16del variation might be caused by a founder effect.
Conclusion:
Due to the high rate of consanguinity in Turkey, the incidence of Sanfilippo syndrome might be higher compared to other populations worldwide. Our results contribute to the characterization of rare diseases in Turkey and to improve our knowledge of the clinical, molecular, and epidemiological aspects of MPS-3 disease.
Insights
Sanfilippo syndrome (MPS-3) is a rare genetic disorder. This study identified novel gene variants in Turkish patients, contributing to understanding its molecular and epidemiological aspects in the region.
Area of Science:
- Genetics
- Rare Diseases
- Biochemistry
Background:
- Sanfilippo syndrome (mucopolysaccharidosis type 3) is a rare lysosomal storage disorder.
- It results from enzyme deficiencies in heparan sulfate degradation, leading to neurotoxicity and central nervous system degeneration.
- Epidemiological data for MPS-3 remain largely undefined.
Purpose of the Study:
- To report clinical and molecular findings in 15 Turkish patients diagnosed with MPS-3.
- To characterize MPS-3 subtypes (MPS-3A and MPS-3B) in a specific population.
- To contribute to the understanding of rare diseases in Turkey.
Main Methods:
- Clinical data collection at diagnosis and during follow-up.
- Molecular characterization of affected individuals.
- Genetic sequencing of SGSH and NAGLU genes.
Main Results:
- Identified 2 distinct variants in the SGSH gene and 10 in the NAGLU gene.
- Reported 6 previously published and 6 novel variants.
- A potential founder effect was suggested for the SGSH NM_000199.4:c.7_16del variant.
Conclusions:
- The incidence of Sanfilippo syndrome may be higher in Turkey due to consanguinity.
- This study enhances the characterization of rare diseases within the Turkish population.
- Findings improve knowledge of the clinical, molecular, and epidemiological facets of MPS-3.
