Case report: The spectrum of SMPD1 pathogenic variants in Hungary

Front Genet. 2023 Jun 6;14:1158108. doi: 10.3389/fgene.2023.1158108.

PMID: 37347058

Maria Judit Molnar, Tamas Szlepak, Ildikó Csürke

Highlights: This article reports the first description of all six diagnosed acid sphingomyelinase deficiency cases in Hungary.

Abstract

Background: An autosomal recessive condition known as acid sphingomyelinase deficiency (ASMD) is brought on by biallelic pathogenic variants in the sphingomyelin phosphodiesterase-1 (SMPD1) gene. The three kinds of acid sphingomyelinase deficiency (ASMD type A, ASMD type A/B, and ASMD type B) are distinguished by a spectrum of diseases. There have been reported to be more than 220 disease-related SMPD1 variants, and genotype/phenotype associations are limited.

Objective and results: This study provides the first detailed account of all six cases of acid sphingomyelinase deficiency that have been identified in Hungary. In this cohort, there are nine SMPD1 variants, including three (G247D, M384R, and F572L) that have only been reported in patients from Hungary. It is believed that all reported variants are pathogenic. One frameshift variant and eight missense variants are present. Hematopoietic stem cell transplantation was used to treat one ASMD type A/B patient in this cohort.

Conclusion: This research may support the diagnosis, genetic counseling, and treatment of acid sphingomyelinase deficiency in patients.

Keywords: ASMD, Niemann-Pick disease type A/B, SMPD1, acid sphingomyelinase deficiency type A/B, intermediate-type acid sphingomyelinase deficiency