Medical Journal of The Islamic Republic of Iran (MJIRI)
Iran University of Medical Sciences
Wed, Sep 18, 2024
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Volume 33, Issue 1 (2-2019)
Med J Islam Repub Iran 2019 |
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Zahedi Abghari F, Bayat F, Razipour M, Karimipoor M, Taghavi-Basmenj M, Zeinali S et al . Characterization of Niemann-Pick diseases genes mutation spectrum in Iran and identification of a novel mutation in SMPD1 gene. Med J Islam Repub Iran 2019; 33 (1) :757-761
URL: http://mjiri.iums.ac.ir/article-1-5575-en.html
URL: http://mjiri.iums.ac.ir/article-1-5575-en.html
Fateme Zahedi Abghari 
, Fatemeh Bayat , Masoumeh Razipour , Morteza Karimipoor , Maryam Taghavi-Basmenj , Sirous Zeinali , Elham Davoudi-Dehaghani
, Fatemeh Bayat , Masoumeh Razipour , Morteza Karimipoor , Maryam Taghavi-Basmenj , Sirous Zeinali , Elham Davoudi-Dehaghani
Department of Molecular Medicine, Biotechnology Research Center, Pasteur Institute of Iran, Tehran, Iran , davoodie419419@yahoo.com
Abstract: (2613 Views)
Background: Niemann-Pick diseases are rare inherited lipid storage disorders caused by mutations in the SMPD1, NPC1, and NPC2 genes. The aim of this study was to assess the mutation spectrum of a cohort of Iranian Niemann-Pick patients.
Methods: A consanguineous couple with a child suspected of having Niemann-Pick disease type A (died at age 2) was screened for gene mutations in the SMPD1 gene. Sanger sequencing was performed for all exons and exon-intron boundary regions. A literature review on SMPD1, NPC1, and NPC2 genes mutations in Iran was conducted using published original papers on this subject.
Results: A novel frameshift c.762delG (p.Leu256fs*) at a heterozygous state was identified in the parents. According to the review study, identified mutations in 39 Iranian patients were concentrated in exon 2 of the SMPD1 gene and exons 8 and 9 of the NPC1 gene.
Conclusion: Niemann-Pick diseases genes mutation analysis (SMPD1, NPC1, and NPC2) in Iran shows the genetic heterogeneity of these diseases in this country. More studies with larger sample sizes should be conducted to further examine genetic changes associated with Niemann-Pick diseases in Iran.
Methods: A consanguineous couple with a child suspected of having Niemann-Pick disease type A (died at age 2) was screened for gene mutations in the SMPD1 gene. Sanger sequencing was performed for all exons and exon-intron boundary regions. A literature review on SMPD1, NPC1, and NPC2 genes mutations in Iran was conducted using published original papers on this subject.
Results: A novel frameshift c.762delG (p.Leu256fs*) at a heterozygous state was identified in the parents. According to the review study, identified mutations in 39 Iranian patients were concentrated in exon 2 of the SMPD1 gene and exons 8 and 9 of the NPC1 gene.
Conclusion: Niemann-Pick diseases genes mutation analysis (SMPD1, NPC1, and NPC2) in Iran shows the genetic heterogeneity of these diseases in this country. More studies with larger sample sizes should be conducted to further examine genetic changes associated with Niemann-Pick diseases in Iran.
Type of Study: Original Research |
Subject:
Medical Genetics
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