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Exome sequencing confirms molecular diagnoses in 38 Chinese families with hereditary spherocytosis
Alternative TitleExome sequencing confirms molecular diagnoses in 38 Chinese families with hereditary spherocytosis
Wang Rongrong1; Yang Shuanghao2; Xu Ming2; Huang Jia3; Liu Hongyan4; Gu Weiyue2; Zhang Xue1
2018
Source PublicationSCIENCE CHINA-LIFE SCIENCES
ISSN1674-7305
Volume61Issue:8Pages:947-953
AbstractHereditary spherocytosis (HS), the most common cause of congenital hemolytic anemia, is caused by deficiency of the erythrocyte membrane proteins. Five causative genes (ANK1, SPTB, SPTA1, SLC4A1, and EPB42) have been identified. To date, molecular genetic studies have been performed in different populations, including the American, European, Brazilian, Japanese and Korean populations, whereas only a few studies have been described in the Chinese population. Here, by reanalysis of the exome data, we revealed causative mutations and established a definitive diagnosis of HS in all 38 Chinese families. We found 34 novel mutations and four reported mutations in three known HS-causing genes-17 in ANK1, 17 in SPTB and four in SLC4A1, suggesting that ANK1 and SPTB are the major genes in Chinese patients with HS. All of the ANK1 or SPTB mutations, scattered throughout the entire genes, are non-recurrent; and most of them are null mutations, which might cause HS via a haploinsufficiency mechanism. De novo mutations in ANK1 or SPTB often occur with an unexpected high frequency (87.5% and 64.2%, respectively). Our study updates our knowledge about the genetic profile of HS in Chinese and shows that family-based, especially parent-offspring trio, sequencing analysis can help to increase the diagnostic power and improve diagnostic efficiency.
Other AbstractHereditary spherocytosis (HS), the most common cause of congenital hemolytic anemia, is caused by deficiency of the ery- throcyte membrane proteins. Five causative genes (ANK1, SPTB, SPTA1, SLC4AI, and EPB42) have been identified. To date, molecular genetic studies have been performed in different populations, including the American, European, Brazilian, Japanese and Korean populations, whereas only a few studies have been described in the Chinese population. Here, by reanalysis of the exome data, we revealed causative mutations and established a definitive diagnosis of HS in all 38 Chinese families. We found 34 novel mutations and four reported mutations in three known HS-causing genes--17 in ANK1, 17 in SPTB and four in SLC4A1, suggesting that ANK1 and SPTB are the major genes in Chinese patients with HS. All of the ANK1 or SPTB mutations, scattered throughout the entire genes, are non-recurrent; and most of them are null mutations, which might cause HS via a hap-loinsufficiency mechanism. De novo mutations in ANK1 or SPTB often occur with an unexpected high frequency (87.5% and 64.2%, respectively). Our study updates our knowledge about the genetic profile of HS in Chinese and shows that family-based, especially parent-offspring trio, sequencing analysis can help to increase the diagnostic power and improve diagnostic efficiency.
KeywordRED-CELL MEMBRANE HEMATOLOGICALLY IMPORTANT MUTATIONS RENAL TUBULAR-ACIDOSIS HEMOLYTIC-ANEMIA BETA-SPECTRIN CYTOPLASMIC DOMAIN BAND-3 DEFICIENCY DISORDERS ANKYRIN VARIANTS hereditary spherocytosis mutation ANK1 SPTB SLC4A1 whole-exome sequencing
Indexed ByCSCD
Language英语
Funding Project[National Key Research and Development Program of China] ; [CAMS Innovation Fund for Medical Sciences] ; [National Natural Science Foundation of China (NSFC)] ; [Beijing Municipal Science and Technology Commission] ; [Medical Science and Technology Research Projects of Henan Provincial Health Bureau] ; [Scientific and Technological Projects of the Technology Bureau of Henan Provincial Technology]
CSCD IDCSCD:6343154
Citation statistics
Document Type期刊论文
Identifierhttp://ir.imr.ac.cn/handle/321006/152380
Collection中国科学院金属研究所
Affiliation1.中国医学科学院
2.Joy Orient Translat Med Res Ctr Co Ltd, Beijing 100176, Peoples R China
3.中国科学院金属研究所
4.Henan Univ, Zhengzhou Univ, Henan Prov Peoples Hosp, Med Genet Institute,Peoples Hosp, Zhengzhou 450000, Henan, Peoples R China
Recommended Citation
GB/T 7714
Wang Rongrong,Yang Shuanghao,Xu Ming,et al. Exome sequencing confirms molecular diagnoses in 38 Chinese families with hereditary spherocytosis[J]. SCIENCE CHINA-LIFE SCIENCES,2018,61(8):947-953.
APA Wang Rongrong.,Yang Shuanghao.,Xu Ming.,Huang Jia.,Liu Hongyan.,...&Zhang Xue.(2018).Exome sequencing confirms molecular diagnoses in 38 Chinese families with hereditary spherocytosis.SCIENCE CHINA-LIFE SCIENCES,61(8),947-953.
MLA Wang Rongrong,et al."Exome sequencing confirms molecular diagnoses in 38 Chinese families with hereditary spherocytosis".SCIENCE CHINA-LIFE SCIENCES 61.8(2018):947-953.
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