Complementarity of biomarker screening and genetic analyses based on the case of an attenuated multiple sulfatase deficiency.

Patryk Lipiński, Agnieszka Ługowska, Agnieszka Pollak, Rafał Płoski, Anna Tylki-Szymańska

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In one paragraph

Article in Journal of applied genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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0citing papers in PubMed

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1 · What the graph read from it

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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

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4 · The record

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5 · Who and what money

Authors and funding

5 authors.

Patryk LipińskiInstitute of Clinical Sciences, Maria Skłodowska-Curie Medical Academy, Warsaw, Poland. patryk.lipinski.92@gmail.com.ORCID http://orcid.org/0000-0002-1849-8375

Agnieszka ŁugowskaDepartment of Genetics, Institute of Psychiatry and Neurology, Warsaw, Poland.

Agnieszka PollakDepartment of Medical Genetics, Medical University of Warsaw, Warsaw, Poland.

Rafał PłoskiDepartment of Medical Genetics, Medical University of Warsaw, Warsaw, Poland.

Anna Tylki-SzymańskaDepartment of Pediatrics, Nutrition and Metabolic Diseases, The Children's Memorial Health Institute, Warsaw, Poland.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Multiple sulfatase deficiency (MSD) is an ultra-rare lysosomal disease caused by defective activation of cellular sulfatases comprising clinical features of mucopolysaccharidoses, sphingolipidoses, and other sulfatase deficiencies. We present a case of an infant with feeding difficulties related to autism spectrum disorder (ASD) who was diagnosed at 10 months of age with MSD by next-generation sequencing (NGS). Biochemical results obtained in dried blood spot (DBS) samples were inconsistent and not suggesting MSD in the light of identified pathogenic SUMF1 variants. However, follow-up analyses at 20 months of age revealed an increased concentration of sulfatides in DBS. It should be noted that biochemical tests, routinely used as screening methods, have a risk of false negative results, especially regarding mild/attenuated phenotypes, as presented in our report.

Indexed as

Autism Spectrum DisorderBiomarkersGenetic TestingMultiple Sulfatase Deficiency DiseaseDried Blood Spot TestingHigh-Throughput Nucleotide SequencingHumansInfantMutationOxidoreductases Acting on Sulfur Group DonorsPhenotypeSulfatasesBiomarkersOxidoreductases Acting on Sulfur Group DonorsSulfatasesSUMF1 protein, humanBiomarkersMultiple sulfatase deficiencyNext-generation sequencing

Identifiers

PMID39776369

DOI10.1007/s13353-024-00936-2

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.