Molecular diagnosis of patients affected by mucopolysaccharidosis: a multicenter study

European Journal of Pediatrics
Alessandra ZanettiR Tomanin

Abstract

Mucopolysaccharidoses (MPS) are a subgroup of 11 monogenic lysosomal storage disorders due to the deficit of activity of the lysosomal hydrolases deputed to the degradation of mucopolysaccharides. Although individually rare, all together they account for at least 1:25,000 live births. In this study, we present the genetic analysis of a population of 71 MPS patients enrolled in a multicenter Italian study. We re-annotated all variants, according to the latest recommendations, and re-classified them as suggested by the American College of Medical Genetics and Genomics. Variant distribution per type was mainly represented by missense mutations. Overall, 10 patients had received no molecular diagnosis, although 6 of them had undergone either HSCT or ERT, based on clinical and enzymatic evaluations. Moreover, nine novel variants are reported.Conclusions: Our analysis underlines the need to complete the molecular diagnosis in patients previously diagnosed only on a biochemical basis, suggests a periodical re-annotation of the variants and solicits their deposition in public databases freely available to clinicians and researchers. We strongly recommend a molecular diagnosis based on the analysis of the "trio" instead of the sole prob...Continue Reading

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Citations

Nov 20, 2020·Orphanet Journal of Rare Diseases·Pâmella BorgesUrsula Matte
Mar 8, 2021·BMC Medical Genomics·Alla Nikolaevna SemyachkinaEkaterina Yurievna Zakharova
Apr 23, 2021·Journal of Applied Oral Science : Revista FOB·Natália Cristina Ruy CarneiroAna Cristina Borges-Oliveira

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