Publication detail

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

AL-EITAN, L. ALQA'QA, K. AMAYREH, W. ALJAMAL, H. KHASAWNEH, R. AL-ZOUBI, B. OKOUR, I. HADDAD, A. HADDAD, Y. HADDAD, H.

Original Title

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

Type

journal article in Web of Science

Language

English

Original Abstract

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 mu mol/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.

Keywords

Sphingomyelin phosphodiesterase; Acid sphingomyelinase; Gangliosides; Genotype; Acid sphingomyelinase deficiency; ASMD; Jordan

Authors

AL-EITAN, L.; ALQA'QA, K.; AMAYREH, W.; ALJAMAL, H.; KHASAWNEH, R.; AL-ZOUBI, B.; OKOUR, I.; HADDAD, A.; HADDAD, Y.; HADDAD, H.

Released

15. 7. 2020

ISBN

0378-1119

Periodical

GENE

Year of study

747

Number

144683

State

Kingdom of the Netherlands

Pages from

1

Pages to

8

Pages count

8

URL

https://doi.org/10.1016/j.gene.2020.144683

BibTex

@article{BUT169139,
  author="AL-EITAN, L. and ALQA'QA, K. and AMAYREH, W. and ALJAMAL, H. and KHASAWNEH, R. and AL-ZOUBI, B. and OKOUR, I. and HADDAD, A. and HADDAD, Y. and HADDAD, H.",
  title="Novel mutations in the SMPD1 gene in Jordanian children with Acid sphingomyelinase deficiency (Niemann-Pick types A and B)",
  journal="GENE",
  year="2020",
  volume="747",
  number="144683",
  pages="1--8",
  doi="10.1016/j.gene.2020.144683",
  issn="0378-1119",
  url="https://doi.org/10.1016/j.gene.2020.144683"
}