Your browser doesn't support javascript.
loading
c.753_754delAG, a novel CFTR mutation found in a Chinese patient with cystic fibrosis: A case report and review of the literature.
Wang, Yu-Qing; Hao, Chuang-Li; Jiang, Wu-Jun; Lu, Yan-Hong; Sun, Hui-Quan; Gao, Chun-Yan; Wu, Min.
Afiliação
  • Wang YQ; Department of Respiratory Medicine, Children's Hospital of Soochow University, Suzhou 215000, Jiangsu Province, China. wang_yu_qing@126.com.
  • Hao CL; Department of Respiratory Medicine, Children's Hospital of Soochow University, Suzhou 215000, Jiangsu Province, China.
  • Jiang WJ; Department of Respiratory Medicine, Children's Hospital of Soochow University, Suzhou 215000, Jiangsu Province, China.
  • Lu YH; Department of Respiratory Medicine, Children's Hospital of Soochow University, Suzhou 215000, Jiangsu Province, China.
  • Sun HQ; Department of Respiratory Medicine, Children's Hospital of Soochow University, Suzhou 215000, Jiangsu Province, China.
  • Gao CY; Department of Respiratory Medicine, Children's Hospital of Soochow University, Suzhou 215000, Jiangsu Province, China.
  • Wu M; Department of Respiratory Medicine, Children's Hospital of Soochow University, Suzhou 215000, Jiangsu Province, China.
World J Clin Cases ; 7(15): 2110-2119, 2019 Aug 06.
Article em En | MEDLINE | ID: mdl-31423445
BACKGROUND: Cystic fibrosis (CF) is rare in Asian populations relative to the Caucasian population. In this paper, we report the cystic fibrosis transmembrane conductance regulator (CFTR) variation in a family of Chinese CF patients, and systematically review the previous literature. CASE SUMMARY: Here we report a 30-month-old Chinese girl who was diagnosed with CF based on her history and symptoms such as recurrent productive cough, wheezing with repeated infection of Pseudomonas aeruginosa, and parasinusitis. Chest computed tomography (CT) scanning revealed obvious exudative lesions and bilateral bronchiectasis. Liver CT scanning revealed a low-density lesion in the left lobe of the liver. A diagnosis of CF was made based upon CFTR gene tests. The CFTR gene was sequenced using the blood samples of her and her parents and showed a heterozygous novel missense mutation of c.753_754delAG in exon 7. In addition, a heterozygous c.1240 C>T mutation was found in exon 10 of the CFTR. The mutation c.753_754delAG was verified to have been inherited from her mother, and the c.1240 C>T mutation was from her father who was diagnosed with congenital absence of vas deferens. CONCLUSION: A novel mutation of CFTR, c.753_754delAG, was found in a Chinese CF child. c.2909G>A is the most common mutation among Chinese CF patients.
Palavras-chave

Texto completo: 1 Base de dados: MEDLINE Idioma: En Revista: World J Clin Cases Ano de publicação: 2019 Tipo de documento: Article País de afiliação: China

Texto completo: 1 Base de dados: MEDLINE Idioma: En Revista: World J Clin Cases Ano de publicação: 2019 Tipo de documento: Article País de afiliação: China