Exome sequencing confirms molecular diagnoses in 38 Chinese families with hereditary spherocytosis
| العنوان: | Exome sequencing confirms molecular diagnoses in 38 Chinese families with hereditary spherocytosis |
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| المؤلفون: | Ming Xu, Shuanghao Yang, Xue Zhang, Rongrong Wang, Weiyue Gu, Hongyan Liu, Jia Huang |
| المصدر: | Science China Life Sciences. 61:947-953 |
| بيانات النشر: | Springer Science and Business Media LLC, 2018. |
| سنة النشر: | 2018 |
| مصطلحات موضوعية: | Adult, Ankyrins, Male, 0301 basic medicine, China, Adolescent, Spherocytosis, Hereditary, Biology, medicine.disease_cause, General Biochemistry, Genetics and Molecular Biology, Hereditary spherocytosis, Young Adult, 03 medical and health sciences, Asian People, ANK1, Anion Exchange Protein 1, Erythrocyte, Exome Sequencing, medicine, Humans, Genetic Predisposition to Disease, Child, Exome, Gene, Exome sequencing, General Environmental Science, Family Health, Genetics, Mutation, Infant, Spectrin, medicine.disease, Pedigree, 030104 developmental biology, Child, Preschool, Female, General Agricultural and Biological Sciences, Haploinsufficiency, Congenital hemolytic anemia |
| الوصف: | Hereditary 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. |
| تدمد: | 1869-1889 1674-7305 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::909c1197ef8e47bdc0caba752f41028aTest https://doi.org/10.1007/s11427-017-9232-6Test |
| حقوق: | CLOSED |
| رقم الانضمام: | edsair.doi.dedup.....909c1197ef8e47bdc0caba752f41028a |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 18691889 16747305 |
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