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Novel mutations in the SMPD1 gene in Jordanian children with Acid sphingomyelinase deficiency (Niemann-Pick types A and B)

L. Al-Eitan, K. Alqa'qa', W. Amayreh, H. Aljamal, R. Khasawneh, B. Al-Zoubi, I. Okour, A. Haddad, Y. Haddad, H. Haddad,

. 2020 ; 747 (-) : 144683. [pub] 20200418

Language English Country Netherlands

Document type Case Reports, Journal Article

Persistent link   https://www.medvik.cz/link/bmc20022983

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.

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$a Al-Eitan, Laith $u Department of Applied Biological Sciences, Jordan University of Science and Technology, Irbid 22110, Jordan; Department of Biotechnology and Genetic Engineering, Jordan University of Science and Technology, Irbid 22110, Jordan. Electronic address: lneitan@just.edu.jo.
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$a 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.
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$a Alqa'qa', Kifah $u Department of Pediatrics, Jordan University of Science and Technology, Irbid 22110, Jordan.
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$a Amayreh, Wajdi $u Department of Pediatrics, Metabolic Genetics Clinic, Queen Rania Al-Abdullah Children's Hospital, King Hussein Medical Centre, Amman 11855, Jordan.
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$a Aljamal, Hanan $u Department of Applied Biological Sciences, Jordan University of Science and Technology, Irbid 22110, Jordan.
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$a Khasawneh, Rame $u Department of Pathology, Division of Molecular Genetic Pathology, King Hussein Medical Center, Amman 11733, Jordan.
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$a Al-Zoubi, Batool $u Princess Haya Biotechnology Center, Jordan University of Science and Technology, Irbid 22110, Jordan.
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$a Haddad, Amany $u Princess Haya Biotechnology Center, Jordan University of Science and Technology, Irbid 22110, Jordan.
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$a Haddad, Yazan $u Department of Chemistry and Biochemistry, Mendel University in Brno, Brno 61300, Czech Republic; Central European Institute of Technology, Brno University of Technology, Brno 61200, Czech Republic.
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$a Haddad, Hazem $u Princess Haya Biotechnology Center, Jordan University of Science and Technology, Irbid 22110, Jordan.
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