Case report: The spectrum of SMPD1 pathogenic variants in Hungary.

Autor:	Molnar MJ; Institute of Genomic Medicine and Rare Disorders, Semmelweis University, Budapest, Hungary.; ELKH-SE Multiomics Neurodegeneration Research Group, Eötvös Loránd Research Network, Budapest, Hungary., Szlepak T; Institute of Genomic Medicine and Rare Disorders, Semmelweis University, Budapest, Hungary.; ELKH-SE Multiomics Neurodegeneration Research Group, Eötvös Loránd Research Network, Budapest, Hungary., Csürke I; Department of Pediatrics, Josa Andras County Hospital, Nyiregyhaza, Hungary., Loth S; Department of Pediatrics, Semmelweis University, Budapest, Hungary., Káposzta R; Department of Pediatrics, University of Debrecen, Debrecen, Hungary., Erdős M; PID Clinical Unit and Laboratory, Department of Dermatology, Venereology, and Dermatooncology, Semmelweis University, Budapest, Hungary., Dezsőfi A; Department of Pediatrics, Semmelweis University, Budapest, Hungary.
Jazyk:	angličtina
Zdroj:	Frontiers in genetics [Front Genet] 2023 Jun 06; Vol. 14, pp. 1158108. Date of Electronic Publication: 2023 Jun 06 (Print Publication: 2023).
DOI:	10.3389/fgene.2023.1158108
Abstrakt:	Acid sphingomyelinase deficiency (ASMD) is an autosomal recessive disease caused by biallelic pathogenic variants in the sphingomyelin phosphodiesterase-1 ( SMPD1 ) gene. Acid sphingomyelinase deficiency is characterized by a spectrum of disease and is broadly divided into three types (ASMD type A, ASMD type A/B, and ASMD type B). More than 220 disease-associated SMPD1 variants have been reported, and genotype/phenotype correlations are limited. Here we report the first description of all six diagnosed acid sphingomyelinase deficiency cases in Hungary. Nine SMPD1 variants are present in this cohort, including 3 SMPD1 variants (G247D, M384R, and F572L), which have only been described in Hungarian patients. All described variants are deemed to be pathogenic. Eight of the variants are missense, and one is a frameshift variant. The treatment of an ASMD type A/B patient in this cohort using hematopoietic stem cell transplantation is also detailed. This study may help to support diagnosis, patient genetic counseling, and management of acid sphingomyelinase deficiency. Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest. (Copyright © 2023 Molnar, Szlepak, Csürke, Loth, Káposzta, Erdős and Dezsőfi.)
Databáze:	MEDLINE
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