Identification of CDAN1, C15ORF41 and SEC23B mutations in Chinese patients affected by congenital dyserythropoietic anemia.

Yongwei Wang, Yongxin Ru, Gang Liu, Shuxu Dong, Yuan Li, Xiaofan Zhu, Fengkui Zhang, Yan-Zhong Chang, Guangjun Nie

Journal: Gene 2017;640():73-78

PMID: 29031773

Full Text on Elsevier Science View on PubMed

Abstract

Congenital dyserythropoietic anaemias (CDAs) are a group of rare haematological disorders characterized by ineffective erythropoiesis and dyserythropoiesis and reduced numbers of red cells, often with an abnormal morphology. Pathogenic defects in CDAN1, C15ORF41, SEC23B, KIF23, KLF1 and GATA1 genes have been identified in CDAs patients. In this study, we described 13 unrelated Chinese CDAs patients and identified 21 mutations, including 5 novel mutations in CDAN1 gene, and 5 novel mutations in SEC23B gene. Additionally, we predicted the molecular consequence of these missense mutations with Polymorphism Phenotyping v2 (Polyphen), Sorting Intolerant From Tolerant (SIFT), MutPred (http://mutpred1.mutdb.org/) and Protein Variation Effect Analyzer (Provean, http://provean.jcvi.org/seq_submit.php) and analyzed the conservation of the mutated amino acid among proteins from several mammalian species.

Address: Laboratory of Molecular Iron Metabolism, College of Life Science, Hebei Normal University, Shijiazhuang 050024, Hebei Province, China; CAS Key Laboratory for Biomedical Effects of Nanomaterials and Nanosafety, CAS Center for Excellence in Nanoscience, National Center for Nanoscience and Technology, Beijing 100190, China.; Institute of Hematology & Blood Disease Hospital, Chinese Academy of Medical Science, Peking Union Medical College, State Key Laboratory of Experimental Haematology, Tianjin, China.; CAS Key Laboratory for Biomedical Effects of Nanomaterials and Nanosafety, CAS Center for Excellence in Nanoscience, National Center for Nanoscience and Technology, Beijing 100190, China; Section on Human Iron Metabolism, National Institute of Child Health and Human Development/NIH, 35 Convent Drive Porter Neuroscience II, 2D995A, Bethesda, MD 20892, United States.; Institute of Hematology & Blood Disease Hospital, Chinese Academy of Medical Science, Peking Union Medical College, State Key Laboratory of Experimental Haematology, Tianjin, China. Electronic address: [email protected].; Laboratory of Molecular Iron Metabolism, College of Life Science, Hebei Normal University, Shijiazhuang 050024, Hebei Province, China. Electronic address: [email protected].; CAS Key Laboratory for Biomedical Effects of Nanomaterials and Nanosafety, CAS Center for Excellence in Nanoscience, National Center for Nanoscience and Technology, Beijing 100190, China. Electronic address: [email protected].

DOI: 10.1016/j.gene.2017.10.027

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MeSH Terms: Adolescent, Adult, Anemia, Dyserythropoietic, Congenital, Asian People, Case-Control Studies, Cell Cycle Proteins, Child, Child, Preschool, Female, Glycoproteins, Humans, Infant, Infant, Newborn, Male, Middle Aged, Mutation, Nuclear Proteins, Vesicular Transport Proteins, Young Adult