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Late Infantile Metachromatic Leukodystrophy Due to Novel Pathogenic Variants in the PSAP Gene

Authors
  • Kolnikova, Miriam1
  • Jungova, Petra2
  • Skopkova, Martina3
  • Foltan, Tomas1
  • Gasperikova, Daniela3
  • Mattosova, Slavomira2
  • Chandoga, Jan2
  • 1 Comenius University Faculty of Medicine and National Institute of Children’s Diseases, Department of Pediatric Neurology, Bratislava, Slovakia , Bratislava (Slovakia)
  • 2 Comenius University Faculty of Medicine & University Hospital Bratislava, Department of Molecular and Biochemical Genetics - Centre of Rare Genetic Diseases, Bratislava, Slovakia , Bratislava (Slovakia)
  • 3 Slovak Academy of Sciences, Department of Metabolic Disorders, Institute of Experimental Endocrinology, Biomedical Research Center, Bratislava, Slovakia , Bratislava (Slovakia)
Type
Published Article
Journal
Journal of Molecular Neuroscience
Publisher
Springer-Verlag
Publication Date
Jan 11, 2019
Volume
67
Issue
4
Pages
559–563
Identifiers
DOI: 10.1007/s12031-019-1259-7
Source
Springer Nature
Keywords
License
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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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