NEW SINGLE NUCLEOTIDE DELETION IN THE SMPD1 GENE CAUSES NIEMANN PICK DISEASE TYPE A IN A CHILD FROM SOUTHWEST IRAN: A CASE REPORT

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GALEHDARI HAMID; TANGESTANI RAHELEH; GHASEMIAN SEPIDEH

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Journal: Iranian Journal of Pediatrics Year:2013 | Volume:23 | Issue:2 Page(s): 233-236

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Title

NEW SINGLE NUCLEOTIDE DELETION IN THE SMPD1 GENE CAUSES NIEMANN PICK DISEASE TYPE A IN A CHILD FROM SOUTHWEST IRAN: A CASE REPORT

Author(s)

GALEHDARI HAMID | TANGESTANI RAHELEH | GHASEMIAN SEPIDEH | Issue Writer Certificate

Keywords

NIEMANN PICK DISEASE

SMPD1 GENE

ACID SPHINGOMYELINASE-1

MUTATION

Abstract

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.

Cites

ANALYSIS OF GENETIC VARIATION OF RS1542705 MARKER IN SMPD1 GENE REGION AS AN INFORMATIVE MARKER FOR MOLECULAR DIAGNOSIS OF NIEMANN- PICK DISEASE IN ISFAHAN POPULATION

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APA: Copy

GALEHDARI, HAMID, TANGESTANI, RAHELEH, & GHASEMIAN, SEPIDEH. (2013). NEW SINGLE NUCLEOTIDE DELETION IN THE SMPD1 GENE CAUSES NIEMANN PICK DISEASE TYPE A IN A CHILD FROM SOUTHWEST IRAN: A CASE REPORT. IRANIAN JOURNAL OF PEDIATRICS, 23(2), 233-236. SID. https://sid.ir/paper/659827/en

Vancouver: Copy

GALEHDARI HAMID, TANGESTANI RAHELEH, GHASEMIAN SEPIDEH. NEW SINGLE NUCLEOTIDE DELETION IN THE SMPD1 GENE CAUSES NIEMANN PICK DISEASE TYPE A IN A CHILD FROM SOUTHWEST IRAN: A CASE REPORT. IRANIAN JOURNAL OF PEDIATRICS[Internet]. 2013;23(2):233-236. Available from: https://sid.ir/paper/659827/en

IEEE: Copy

HAMID GALEHDARI, RAHELEH TANGESTANI, and SEPIDEH GHASEMIAN, “NEW SINGLE NUCLEOTIDE DELETION IN THE SMPD1 GENE CAUSES NIEMANN PICK DISEASE TYPE A IN A CHILD FROM SOUTHWEST IRAN: A CASE REPORT,” IRANIAN JOURNAL OF PEDIATRICS, vol. 23, no. 2, pp. 233–236, 2013, [Online]. Available: https://sid.ir/paper/659827/en

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