TY - JOUR
T1 - Identification of CDAN1, C15ORF41 and SEC23B mutations in Chinese patients affected by congenital dyserythropoietic anemia
AU - Wang, Yongwei
AU - Ru, Yongxin
AU - Liu, Gang
AU - Dong, Shuxu
AU - Li, Yuan
AU - Zhu, Xiaofan
AU - Zhang, Fengkui
AU - Chang, Yan Zhong
AU - Nie, Guangjun
N1 - Funding Information:
This research was supported by the National Distinguished Youth Scholar Grant of China ( 31325010 , G.N.). The authors thank Professor Gregory J. Anderson for careful editing of the manuscript.
Publisher Copyright:
© 2017
PY - 2018/1/15
Y1 - 2018/1/15
N2 - 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.
AB - 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.
KW - C15ORF41
KW - CDAN1
KW - Chinese CDA patients
KW - Novel mutations
KW - SEC23B
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U2 - 10.1016/j.gene.2017.10.027
DO - 10.1016/j.gene.2017.10.027
M3 - Article
C2 - 29031773
AN - SCOPUS:85037696566
VL - 640
SP - 73
EP - 78
JO - Gene
JF - Gene
SN - 0378-1119
ER -