Novel mutations in the SMPD1 gene in Jordanian children with Acid sphingomyelinase deficiency (Niemann-Pick types A and B)
Language English Country Netherlands Media print-electronic
Document type Case Reports, Journal Article
PubMed
32311413
DOI
10.1016/j.gene.2020.144683
PII: S0378-1119(20)30352-8
Knihovny.cz E-resources
- Keywords
- ASMD, Acid sphingomyelinase, Acid sphingomyelinase deficiency, Gangliosides, Genotype, Jordan, Sphingomyelin phosphodiesterase,
- MeSH
- Child MeSH
- Fatal Outcome MeSH
- Infant MeSH
- Humans MeSH
- Mutation genetics MeSH
- Niemann-Pick Disease, Type A enzymology genetics MeSH
- Niemann-Pick Disease, Type B enzymology genetics MeSH
- Pedigree MeSH
- Amino Acid Sequence MeSH
- Base Sequence MeSH
- Sphingomyelin Phosphodiesterase chemistry genetics MeSH
- Check Tag
- Child MeSH
- Infant MeSH
- Humans MeSH
- Male MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
- Case Reports MeSH
- Geographicals
- Jordan MeSH
- Names of Substances
- Sphingomyelin Phosphodiesterase MeSH
- SMPD1 protein, human MeSH Browser
Acid sphingomyelinase (ASM) deficiency (ASMD) is a spectrum that includes Niemann-Pick disease (NPD) types A (NPD A) and B (NPD B). ASMD is characterized by intracellular accumulation of unesterified cholesterol and gangliosides within the endosomal-lysosomal system. It is caused by different mutations in SMPD1 gene that result in reduction or complete absence of acid sphingomyelinase activity in the cells. Herein, four unrelated consanguineous families with two NPD A and three NPD B patients were assessed for their genotypes via sequencing of the SMPD1 gene and their acid sphingomyelinase enzymatic activity. Among the eight identified mutations, three were novel and reported for the first time in Jordanian families (c.120_131delGCTGGCGCTGGC or c.132_143delGCTGGCGCTGGC, c.1758T > G, and c.1344T > A). All the patients displayed ASM activity lower than 1.3 µmol/l/h (P < 0.001). Genotyping and enzymatic assessment might play a significant role in disease identification in people at risk to facilitate genetic counseling in the future.
Department of Pediatrics Jordan University of Science and Technology Irbid 22110 Jordan
Princess Haya Biotechnology Center Jordan University of Science and Technology Irbid 22110 Jordan
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