ArticleJournal of molecular neuroscience : MN2019
Late Infantile Metachromatic Leukodystrophy Due to Novel Pathogenic Variants in the PSAP Gene.
Article in Journal of molecular neuroscience : MN, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers, 1 of them a synthesis that pooled it.
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Who cites it
12 citing papers in PubMed, 1 synthesis or guideline pooled it, 25 citations in OpenAlex.
- A systematic review on the birth prevalence of metachromatic leukodystrophy.Orphanet journal of rare diseases · 2024Pooled it
- Exploring Core Genes Associated with Sepsis and Systemic Inflammatory Response Syndrome Using Single-Cell Sequencing Technology.Journal of inflammation research · 2025Article
- A novel homozygousThe Journal of international medical research · 2024Article
- Human Saposin B Ligand Binding and Presentation to α-Galactosidase A.bioRxiv : the preprint server for biology · 2024Article
- Late infantile and adult-onset metachromatic leukodystrophy due to novel missense variants in theJIMD reports · 2023Article
- Review
- Long-term disease course of two patients with multiple sulfatase deficiency differs from metachromatic leukodystrophy in a broad cohort.JIMD reports · 2021Article
- Chinese Cases of Metachromatic Leukodystrophy with the Novel Missense Mutations in ARSA Gene.Journal of molecular neuroscience : MN · 2021Article
- Functional Analysis of Haplotypes in BovineAnimals : an open access journal from MDPI · 2020Article
- Phenotypic and genotypic analysis of limb-Girdle muscular dystrophy type 2B.Neurosciences (Riyadh, Saudi Arabia) · 2020Article
- Metachromatic Leukodystrophy: Diagnosis, Modeling, and Treatment Approaches.Frontiers in medicine · 2020Review
- Combined saposin deficiency: A rare occurrence.Medical journal, Armed Forces IndiaArticle
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Authors and funding
7 authors at 4 institutions in 1 country.
Funding
Abstract
Impairment of saposin B causes rare atypical metachromatic leukodystrophy (MLD). It is encoded (together with saposin A, C, and D) by the PSAP gene. Only ten pathogenic variants were described in the PSAP gene in MLD patients to date. We report on two novel variants in the PSAP gene - c.679_681delAAG in the saposin B encoding exon 6 and c.1268delT in the saposin D encoding exon 11 in a patient with MLD. We discuss the fact, that variants resulting in PSAP null allele can be shared in patients with the deficit of other saposins (A-D) or whole prosaposin. The patient's phenotype depends then on the nature of the second allele - atypical Gaucher disease in case of saposin A, MLD in case of saposin B, and Krabbe disease in case of saposin C impairing mutations. The clinically most severe prosaposin deficit is caused by the presence of two PSAP null alleles. Thus, the assessment of a variant impact is needed to prevent delayed diagnosis or misdiagnosis in patients with PSAP mutations.
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