János Bolyai Research Scholarship of the Hungarian Academy of Sciences(TKP2021-NVA-15)
(TKP2021-EGA-25)
(OTKA139010) Funder: NRDIO
Subjects:
Rare diseases
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.
