Identification of a Mutation in the Novel Compound Heterozygous CFTR in a Chinese Family with Cystic Fibrosis
Cystic fibrosis (CF) is one of the most common autosomal recessive disorders among Caucasians of Northern European descent but is uncommon in the Chinese population. Objectives. To elucidate the mutation in the novel compound heterozygous CFTR causing CF in Chinese family. Materials and Methods. Cli...
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| Format: | Article |
| Language: | English |
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Wiley
2020-01-01
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| Series: | Canadian Respiratory Journal |
| Online Access: | http://dx.doi.org/10.1155/2020/6507583 |
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| author | Hongxia Shao Jingna Hua Qi Wu Xiaoge Li Ming Zhang Herong Wang Junping Wu Long Xu Yi Xie Li Li Huaiyong Chen |
| author_facet | Hongxia Shao Jingna Hua Qi Wu Xiaoge Li Ming Zhang Herong Wang Junping Wu Long Xu Yi Xie Li Li Huaiyong Chen |
| author_sort | Hongxia Shao |
| collection | DOAJ |
| description | Cystic fibrosis (CF) is one of the most common autosomal recessive disorders among Caucasians of Northern European descent but is uncommon in the Chinese population. Objectives. To elucidate the mutation in the novel compound heterozygous CFTR causing CF in Chinese family. Materials and Methods. Clinical samples were obtained from a Chinese family, the brother and sister with recurrent airway infections, hypoxemia and obstructive ventilatory impairment, sinusitis, clubbed fingers, salty sweat, and nasal polyposis. We performed whole-exome sequencing on the family and validated all potential variants by Sanger sequencing. Results. Next-generation sequencing showed a novel compound heterozygous CFTR mutation (c.400 A > G p.Arg134Gly and c.3484 C > T p.Arg1162∗) which resulted in CF in the family. Conclusions. As this mutation is consistent with the observed clinical manifestations of CF and no other mutations were detected after scanning the gene sequence, we suggest that their CF phenotypes are caused by the compound heterozygous mutation, c.400 A > G p.Arg134Gly and c.3484 C > T p.Arg1162∗. As c.400 A > G is not currently listed in the Cystic Fibrosis Mutation Database, this information, regarding the CF-causing mutations in two Chinese patients, is of interest. |
| format | Article |
| id | doaj-art-2c9d44f8479644df882cfbd3fb60d342 |
| institution | Kabale University |
| issn | 1198-2241 1916-7245 |
| language | English |
| publishDate | 2020-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Canadian Respiratory Journal |
| spelling | doaj-art-2c9d44f8479644df882cfbd3fb60d3422025-02-03T00:59:41ZengWileyCanadian Respiratory Journal1198-22411916-72452020-01-01202010.1155/2020/65075836507583Identification of a Mutation in the Novel Compound Heterozygous CFTR in a Chinese Family with Cystic FibrosisHongxia Shao0Jingna Hua1Qi Wu2Xiaoge Li3Ming Zhang4Herong Wang5Junping Wu6Long Xu7Yi Xie8Li Li9Huaiyong Chen10Department of Respiratory Medicine, Haihe Hospital, Tianjin University, Tianjin 300350, ChinaDepartment of Respiratory Medicine, Haihe Hospital, Tianjin University, Tianjin 300350, ChinaDepartment of Respiratory Medicine, Haihe Hospital, Tianjin University, Tianjin 300350, ChinaTianjin Jinnan Xiaozhan Hospital, Tianjin 300353, ChinaDepartment of Medical Ultrasonics, Haihe Hospital, Tianjin University, Tianjin 300350, ChinaDepartment of Respiratory Medicine, Haihe Hospital, Tianjin University, Tianjin 300350, ChinaTianjin Institute of Respiratory Diseases, Tianjin 300350, ChinaDepartment of Science and Education, Haihe Hospital, Tianjin University, Tianjin 300350, ChinaDepartment of Science and Education, Haihe Hospital, Tianjin University, Tianjin 300350, ChinaDepartment of Respiratory Medicine, Haihe Hospital, Tianjin University, Tianjin 300350, ChinaTianjin Institute of Respiratory Diseases, Tianjin 300350, ChinaCystic fibrosis (CF) is one of the most common autosomal recessive disorders among Caucasians of Northern European descent but is uncommon in the Chinese population. Objectives. To elucidate the mutation in the novel compound heterozygous CFTR causing CF in Chinese family. Materials and Methods. Clinical samples were obtained from a Chinese family, the brother and sister with recurrent airway infections, hypoxemia and obstructive ventilatory impairment, sinusitis, clubbed fingers, salty sweat, and nasal polyposis. We performed whole-exome sequencing on the family and validated all potential variants by Sanger sequencing. Results. Next-generation sequencing showed a novel compound heterozygous CFTR mutation (c.400 A > G p.Arg134Gly and c.3484 C > T p.Arg1162∗) which resulted in CF in the family. Conclusions. As this mutation is consistent with the observed clinical manifestations of CF and no other mutations were detected after scanning the gene sequence, we suggest that their CF phenotypes are caused by the compound heterozygous mutation, c.400 A > G p.Arg134Gly and c.3484 C > T p.Arg1162∗. As c.400 A > G is not currently listed in the Cystic Fibrosis Mutation Database, this information, regarding the CF-causing mutations in two Chinese patients, is of interest.http://dx.doi.org/10.1155/2020/6507583 |
| spellingShingle | Hongxia Shao Jingna Hua Qi Wu Xiaoge Li Ming Zhang Herong Wang Junping Wu Long Xu Yi Xie Li Li Huaiyong Chen Identification of a Mutation in the Novel Compound Heterozygous CFTR in a Chinese Family with Cystic Fibrosis Canadian Respiratory Journal |
| title | Identification of a Mutation in the Novel Compound Heterozygous CFTR in a Chinese Family with Cystic Fibrosis |
| title_full | Identification of a Mutation in the Novel Compound Heterozygous CFTR in a Chinese Family with Cystic Fibrosis |
| title_fullStr | Identification of a Mutation in the Novel Compound Heterozygous CFTR in a Chinese Family with Cystic Fibrosis |
| title_full_unstemmed | Identification of a Mutation in the Novel Compound Heterozygous CFTR in a Chinese Family with Cystic Fibrosis |
| title_short | Identification of a Mutation in the Novel Compound Heterozygous CFTR in a Chinese Family with Cystic Fibrosis |
| title_sort | identification of a mutation in the novel compound heterozygous cftr in a chinese family with cystic fibrosis |
| url | http://dx.doi.org/10.1155/2020/6507583 |
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