Identification of a novel mutation in the ST14 gene in an Iranian family with ichthyosis and hypotrichosis.

Inherited ichthyosis is a heterogeneous group of rare cutaneous disorders characterized by hyperkeratosis and scaly skin. So far, only a few genetic studies on ichthyosis have been performed in Iran. Herein, we reported a family with two cases of ichthyosis and hypotrichosis that were investigated by whole exome sequencing. Targeted data analysis identified a novel nonsense variant c.1243C>T (p.Gln415Ter) located at exon 11 of the ST14 gene in the proband. Sanger sequencing showed co-segregation of this mutation with the disease in this family. Further studies are needed to develop knowledge about the spectrum of changes in this gene and their effects on protein function and disease phenotype.

Characterization of Niemann-Pick diseases genes mutation spectrum in Iran and identification of a novel mutation in SMPD1 gene.

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.