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

Publication date: 15 January 2018
Source:Gene, Volume 640
Author(s): Yongwei Wang, Yongxin Ru, Gang Liu, Shuxu Dong, Yuan Li, Xiaofan Zhu, Fengkui Zhang, Yan-Zhong Chang, Guangjun Nie
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://ift.tt/2ysIxXZ) and Protein Variation Effect Analyzer (Provean, http://ift.tt/2oKnc9j) and analyzed the conservation of the mutated amino acid among proteins from several mammalian species.



from # All Medicine by Alexandros G. Sfakianakis via Alexandros G.Sfakianakis on Inoreader http://ift.tt/2ysIyv1
via IFTTT