Iranian Journal of Pediatrics
Tehran University of Medical Sciences Press
Vol. 23, No. 2, 2013, pp. 233-236
Bioline Code: pe13044
Full paper language: English
Document type: Research Article
Document available free of charge
Iranian Journal of Pediatrics, Vol. 23, No. 2, 2013, pp. 233-236
© Copyright 2013 - Iran Journal of Pediatrics
New Single Nucleotide Deletion In the SMPD1 Gene Causes Niemann Pick Disease Type A in a Child from Southwest Iran: A Case Report|
Galehdari, Hamid; Tangestani, Raheleh & Ghasemian, Sepideh
Objective: Niemann Pick disease (NPD) type A (NPA: MIM #257200) is a lipid storage disorder with an
autosomal recessive inheritance and occurrs by defect of the SMPD1 gene encoding sphingomyelinase.
Disruption of this enzyme leads to the accumulation of sphingomyelin in brain and liver, which in turn causes
dysfunction or damage of tissue.
Methods: We report firstly a 2.5 year old boy with NPA in southwest Iran. Initially, the diagnosis was resulted
on the basis of clinical symptoms. The genomic DNA of the suspected individual was subjected to exon
sequencing of the SMPD1 gene. According to the human reference sequence NM_000543.4, a novel single
guanine deletion resulting in a frameshift mutation (p.Gly247Alafs*9) was observed in the SMPD1 gene that
might be causative for the outcome of the disease.
Findings: The present report is the first molecular genetics diagnosis of the NPA in southwest Iran. The
detected deletion in the SMPD1 gene is remarkable because of its novelty.
Conclusion: Despite similar morbidity SGA infants exhibited higher lethal complication rates following
delayed meconium passage compared to AGA infants.
Niemann Pick disease; SMPD1 Gene; Acid sphingomyelinase-1; Mutation
Alternative site location: http://diglib.tums.ac.ir/pub/