Congenital central hypoventilation syndrome in Chinese population: Analysis of three new cases and review of the literature
Abstract Background Congenital central hypoventilation syndrome (CCHS) is a rare autosomal dominant disease that is mainly caused by PHOX2B mutations. The purpose of this study is to analyze and summarize the clinical and genetic characteristics of CCHS patients in the Chinese population from our st...
| Main Authors: | , , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Wiley
2023-12-01
|
| Series: | Molecular Genetics & Genomic Medicine |
| Subjects: | |
| Online Access: | https://doi.org/10.1002/mgg3.2267 |
| _version_ | 1827196779064459264 |
|---|---|
| author | Yaoyao Wang Lina Wang Xiaoying Chen Shiguo Liu Wei Han Xinjuan Yu Xipeng Cao Xiuxiang Liu Jiahui Wang |
| author_facet | Yaoyao Wang Lina Wang Xiaoying Chen Shiguo Liu Wei Han Xinjuan Yu Xipeng Cao Xiuxiang Liu Jiahui Wang |
| author_sort | Yaoyao Wang |
| collection | DOAJ |
| description | Abstract Background Congenital central hypoventilation syndrome (CCHS) is a rare autosomal dominant disease that is mainly caused by PHOX2B mutations. The purpose of this study is to analyze and summarize the clinical and genetic characteristics of CCHS patients in the Chinese population from our study and previous literature. Methods The potential pathogenic gene mutations of CCHS were identified and verified by next generation sequencing combined with Sanger sequencing, fluorescent probe PCR and capillary electrophoresis. The clinical characteristics and gene mutations of CCHS cases in Chinese population were summarized from our study and previous literature to explore the genotype–phenotype correlations. Results We identified 48 CCHS cases including three new cases from our report in China. Overall, 77.1% of the patients had PHOX2B polyalanine repeat expansion mutations (PARMs), and the remaining 22.9% had 10 distinct PHOX2B non‐polyalanine repeat expansion mutations (NPARMs). Compared to those with PARMs, patients with NPARMs were more likely to have premature birth (54.5% vs. 2.8%, p < 0.001) and lower birth weight (33.3% vs. 3.2%, p = 0.030), with statistical significance. The patients with PARMs were more likely to have cardiovascular defects (64.9% vs. 27.3%, p = 0.063), cerebral hemorrhage (29.7% vs. 9.1%, p = 0.322) and seizures (37.8% vs. 9.1%, p = 0.151) than those with NPARMs, with no statistical significance. Conclusions CCHS patients with PHOX2B NPARMs were more likely to have premature birth and low birth weight, while PHOX2B PARMs tended to be positively associated with the risk of cardiovascular defects, cerebral hemorrhage and seizures in Chinese population. |
| first_indexed | 2024-03-08T22:58:00Z |
| format | Article |
| id | doaj.art-dfc871461b9a427e86e6ab2143adcc75 |
| institution | Directory Open Access Journal |
| issn | 2324-9269 |
| language | English |
| last_indexed | 2025-03-21T09:50:39Z |
| publishDate | 2023-12-01 |
| publisher | Wiley |
| record_format | Article |
| series | Molecular Genetics & Genomic Medicine |
| spelling | doaj.art-dfc871461b9a427e86e6ab2143adcc752024-07-06T06:32:39ZengWileyMolecular Genetics & Genomic Medicine2324-92692023-12-011112n/an/a10.1002/mgg3.2267Congenital central hypoventilation syndrome in Chinese population: Analysis of three new cases and review of the literatureYaoyao Wang0Lina Wang1Xiaoying Chen2Shiguo Liu3Wei Han4Xinjuan Yu5Xipeng Cao6Xiuxiang Liu7Jiahui Wang8Department of Pulmonary and Critical Care Medicine, Qingdao Municipal Hospital Qingdao University Qingdao Shandong ChinaDepartment of Respiratory Medicine, the Affiliated Hospital of Qingdao University Qingdao University Qingdao Shandong ChinaDepartment of NICU, Qingdao Women and Children's Hospital Qingdao University Qingdao Shandong ChinaMedical Genetic Department the Affiliated Hospital of Qingdao University Qingdao Shandong ChinaDepartment of Pulmonary and Critical Care Medicine, Qingdao Municipal Hospital Qingdao University Qingdao Shandong ChinaDepartment of Pulmonary and Critical Care Medicine, Qingdao Municipal Hospital Qingdao University Qingdao Shandong ChinaDepartment of Neurology, Qingdao Municipal Hospital Qingdao University Qingdao Shandong ChinaDepartment of NICU, Qingdao Women and Children's Hospital Qingdao University Qingdao Shandong ChinaDepartment of Pulmonary and Critical Care Medicine, Qingdao Municipal Hospital Qingdao University Qingdao Shandong ChinaAbstract Background Congenital central hypoventilation syndrome (CCHS) is a rare autosomal dominant disease that is mainly caused by PHOX2B mutations. The purpose of this study is to analyze and summarize the clinical and genetic characteristics of CCHS patients in the Chinese population from our study and previous literature. Methods The potential pathogenic gene mutations of CCHS were identified and verified by next generation sequencing combined with Sanger sequencing, fluorescent probe PCR and capillary electrophoresis. The clinical characteristics and gene mutations of CCHS cases in Chinese population were summarized from our study and previous literature to explore the genotype–phenotype correlations. Results We identified 48 CCHS cases including three new cases from our report in China. Overall, 77.1% of the patients had PHOX2B polyalanine repeat expansion mutations (PARMs), and the remaining 22.9% had 10 distinct PHOX2B non‐polyalanine repeat expansion mutations (NPARMs). Compared to those with PARMs, patients with NPARMs were more likely to have premature birth (54.5% vs. 2.8%, p < 0.001) and lower birth weight (33.3% vs. 3.2%, p = 0.030), with statistical significance. The patients with PARMs were more likely to have cardiovascular defects (64.9% vs. 27.3%, p = 0.063), cerebral hemorrhage (29.7% vs. 9.1%, p = 0.322) and seizures (37.8% vs. 9.1%, p = 0.151) than those with NPARMs, with no statistical significance. Conclusions CCHS patients with PHOX2B NPARMs were more likely to have premature birth and low birth weight, while PHOX2B PARMs tended to be positively associated with the risk of cardiovascular defects, cerebral hemorrhage and seizures in Chinese population.https://doi.org/10.1002/mgg3.2267congenital central hypoventilation syndromegenotype–phenotype correlationnon‐polyalanine repeat expansion mutationspolyalanine repeat expansion mutations |
| spellingShingle | Yaoyao Wang Lina Wang Xiaoying Chen Shiguo Liu Wei Han Xinjuan Yu Xipeng Cao Xiuxiang Liu Jiahui Wang Congenital central hypoventilation syndrome in Chinese population: Analysis of three new cases and review of the literature Molecular Genetics & Genomic Medicine congenital central hypoventilation syndrome genotype–phenotype correlation non‐polyalanine repeat expansion mutations polyalanine repeat expansion mutations |
| title | Congenital central hypoventilation syndrome in Chinese population: Analysis of three new cases and review of the literature |
| title_full | Congenital central hypoventilation syndrome in Chinese population: Analysis of three new cases and review of the literature |
| title_fullStr | Congenital central hypoventilation syndrome in Chinese population: Analysis of three new cases and review of the literature |
| title_full_unstemmed | Congenital central hypoventilation syndrome in Chinese population: Analysis of three new cases and review of the literature |
| title_short | Congenital central hypoventilation syndrome in Chinese population: Analysis of three new cases and review of the literature |
| title_sort | congenital central hypoventilation syndrome in chinese population analysis of three new cases and review of the literature |
| topic | congenital central hypoventilation syndrome genotype–phenotype correlation non‐polyalanine repeat expansion mutations polyalanine repeat expansion mutations |
| url | https://doi.org/10.1002/mgg3.2267 |
| work_keys_str_mv | AT yaoyaowang congenitalcentralhypoventilationsyndromeinchinesepopulationanalysisofthreenewcasesandreviewoftheliterature AT linawang congenitalcentralhypoventilationsyndromeinchinesepopulationanalysisofthreenewcasesandreviewoftheliterature AT xiaoyingchen congenitalcentralhypoventilationsyndromeinchinesepopulationanalysisofthreenewcasesandreviewoftheliterature AT shiguoliu congenitalcentralhypoventilationsyndromeinchinesepopulationanalysisofthreenewcasesandreviewoftheliterature AT weihan congenitalcentralhypoventilationsyndromeinchinesepopulationanalysisofthreenewcasesandreviewoftheliterature AT xinjuanyu congenitalcentralhypoventilationsyndromeinchinesepopulationanalysisofthreenewcasesandreviewoftheliterature AT xipengcao congenitalcentralhypoventilationsyndromeinchinesepopulationanalysisofthreenewcasesandreviewoftheliterature AT xiuxiangliu congenitalcentralhypoventilationsyndromeinchinesepopulationanalysisofthreenewcasesandreviewoftheliterature AT jiahuiwang congenitalcentralhypoventilationsyndromeinchinesepopulationanalysisofthreenewcasesandreviewoftheliterature |