Molecular genetics and metabolism reports · 2025
Mucopolysaccharidoses types I and IIIA: Diagnosis and identification of novel polymorphisms associated with common mutations in Moroccan patients.
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El Fissi Houda, Bouzid Fadoua, Sebbar Mohammed Said, Serghini Mohammed Amine, Msanda Fouad, Alif Najat
Аннотация
BACKGROUND: Mucopolysaccharidoses types I and IIIA are lysosomal storage diseases caused by mutations in the IDUA and SGSH genes, leading to deficiencies in α-L-iduronidase and heparan sulfamidase, respectively. These progressive, autosomal recessive disorders require early diagnosis.
PURPOSE: The study targeted and investigated the p.Pro533Arg mutation, known to cause mucopolysaccharidosis type I, and the p.Arg377Cys mutation, associated with mucopolysaccharidosis IIIA, in newly recruited Moroccan families. In parallel, variants/polymorphisms associated with these mutations were searched for.
METHODS: Researchers employed RFLP assays for the p.Pro533Arg and p.Arg377Cys mutations and genomic PCR sequencing for variant detection. PolyPhen-2, MutPred2, SIFT, and MutationTaster were used to assess the pathogenicity of these variants, helping to evaluate their potential impact on disease.
RESULTS: The p.Pro533Arg mutation was found in newly recruited families with Hurler syndrome, consistent with previous findings. Similarly, the p.Arg377Cys mutation was present in a newly recruited family with Sanfilippo A syndrome. DNA sequencing revealed five SNPs four in the IDUA gene and one in the SGSH gene with three IDUA SNPs and one SGSH SNP being novel.
CONCLUSION: The p.Pro533Arg and p.Arg377Cys mutations are common among Moroccan patients with MPS I and MPS IIIA, respectively. The ability to detect these mutations using restriction endonucleases allows for molecular diagnosis in affected families. Five polymorphisms were identified among them four are novel.
PURPOSE: The study targeted and investigated the p.Pro533Arg mutation, known to cause mucopolysaccharidosis type I, and the p.Arg377Cys mutation, associated with mucopolysaccharidosis IIIA, in newly recruited Moroccan families. In parallel, variants/polymorphisms associated with these mutations were searched for.
METHODS: Researchers employed RFLP assays for the p.Pro533Arg and p.Arg377Cys mutations and genomic PCR sequencing for variant detection. PolyPhen-2, MutPred2, SIFT, and MutationTaster were used to assess the pathogenicity of these variants, helping to evaluate their potential impact on disease.
RESULTS: The p.Pro533Arg mutation was found in newly recruited families with Hurler syndrome, consistent with previous findings. Similarly, the p.Arg377Cys mutation was present in a newly recruited family with Sanfilippo A syndrome. DNA sequencing revealed five SNPs four in the IDUA gene and one in the SGSH gene with three IDUA SNPs and one SGSH SNP being novel.
CONCLUSION: The p.Pro533Arg and p.Arg377Cys mutations are common among Moroccan patients with MPS I and MPS IIIA, respectively. The ability to detect these mutations using restriction endonucleases allows for molecular diagnosis in affected families. Five polymorphisms were identified among them four are novel.