Novel mutations in mitochondrial carrier family gene SLC25A38, causing congenital sideroblastic anemia in Iranian families, identified by whole exome sequencing
| Autor: | Maryam Zarin, Hossein Najmabadi, Azita Azarkeivan, Maghsood Mehri, Fariba Ardalani, Maryam Neishabury |
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| Rok vydání: | 2018 |
| Předmět: |
Proband
Hemolytic anemia Male Heterozygote Genotype Anemia Genetic counseling Mutation Missense Iran Mitochondrial Membrane Transport Proteins 03 medical and health sciences symbols.namesake Consanguinity 0302 clinical medicine Sideroblastic anemia Bone Marrow Exome Sequencing Medicine Humans Age of Onset Child Molecular Biology Exome sequencing Alleles Sanger sequencing Genetics business.industry Infant Genetic Diseases X-Linked Cell Biology Hematology medicine.disease Anemia Sideroblastic Pedigree Genes Mitochondrial 030220 oncology & carcinogenesis Child Preschool Mutation symbols Molecular Medicine business Consanguineous Marriage 030215 immunology |
| Zdroj: | Blood cells, moleculesdiseases. 71 |
| ISSN: | 1096-0961 |
| Popis: | Sideroblastic anemias are heterogeneous rare hematological disorders, representing diverse phenotypes. In this study, the genetic cause of congenital, transfusion dependent anemia in four unrelated families consisting of eighteen individuals, with one affected member was investigated. Probands were suspected to rare anemias, including sideroblastic anemia. Whole exome sequencing in probands followed by segregation analysis in families was performed. Two novel frame shift mutations and one previously reported missense mutation in SLC25A38 gene was identified in these families. Mutations and their recessive mood of inheritance in each family were confirmed by PCR and Sanger sequencing. These findings suggest that sideroblastic anemia must be considered a possible etiology in cases with unexplained hemolytic anemia. Furthermore, mutations in SLC25A38 gene could be a prevalent cause of congenital sideroblastic anemia (CSA) in the Iranian population. Considering that parents of all affected individuals had consanguineous marriage and belong to sub populations, where consanguineous marriage is prevalent, it is important to perform carrier screening and genetic counseling in these families and their close relatives as prevention strategy in populations at risk. |
| Databáze: | OpenAIRE |
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