RT - Journal Article T1 - Characterization of Niemann-Pick diseases genes mutation spectrum in Iran and identification of a novel mutation in SMPD1 gene JF - MJIRI YR - 2019 JO - MJIRI VO - 33 IS - 1 UR - http://mjiri.iums.ac.ir/article-1-5575-en.html SP - 757 EP - 761 K1 - Niemann-Pick disease type A K1 - Type B K1 - Type C NPD K1 - SMPD1 K1 - NPC1 K1 - NPC2 AB - 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. LA eng UL http://mjiri.iums.ac.ir/article-1-5575-en.html M3 10.47176/mjiri.33.126 ER -