Clinical and genetic characteristics of Cornelia de Lange syndrome in pediatric patients
Fuente:
Wiley Open Access
Gespeichert in:
| Hauptverfasser: | , , , , , , , , , , |
|---|---|
| Format: | Artículo Open Access |
| Veröffentlicht: |
Wiley
2025
|
| Schlagworte: | |
| Online-Zugang: | |
| Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|
| _version_ | 1867004596993392640 |
|---|---|
| author | Xiaoqiao Li Ming Cheng Min Liu Wenjing Li Yuchuan Li Bingyan Cao Liya Wei Yuan Ding Xi Meng Lele Li Chunxiu Gong |
| author_facet | Xiaoqiao Li Ming Cheng Min Liu Wenjing Li Yuchuan Li Bingyan Cao Liya Wei Yuan Ding Xi Meng Lele Li Chunxiu Gong Xiaoqiao Li Ming Cheng Min Liu Wenjing Li Yuchuan Li Bingyan Cao Liya Wei Yuan Ding Xi Meng Lele Li Chunxiu Gong |
| collection | Wiley Open Access |
| contents | Clinical and genetic characteristics of Cornelia de Lange syndrome in pediatric patients Xiaoqiao Li Ming Cheng Min Liu Wenjing Li Yuchuan Li Bingyan Cao Liya Wei Yuan Ding Xi Meng Lele Li Chunxiu Gong Pediatric Investigation ABSTRACTImportanceCornelia de Lange syndrome (CdLS) is a rare genetic disorder characterized by a spectrum of developmental and physical anomalies. Understanding the clinical and genetic landscape of CdLS in pediatric patients is crucial for improving diagnosis and management.ObjectiveTo investigate the clinical and genetic characteristics of 19 pediatric patients with CdLS in China, with a focus on identifying the association between genetic variants and clinical severity.MethodsWe performed whole exome sequencing on 19 patients with CdLS and compared their clinical characteristics based on the presence of null variants.ResultsAmong the 19 patients, 16 (84.2%) showed global developmental delays and 14 (73.7%) experienced prenatal growth retardation and short stature. Craniofacial anomalies–short noses and anteverted nares were observed in 94.7% (18/19) of patients. Small hands and/or feet were present in 16 patients, skin manifestations (hirsutism or mottled skin) in six, and hearing loss in four. Genetic testing identified 19 variants in NIPBL (78.9%, 15/19), SMC1A (10.5%, 2/19), and RAD21 (10.5%, 2/19), including 13 novel variants. NIPBL null variants correlated significantly with more severe growth impairments (P = 0.016) and microcephaly (P = 0.004). Although complete protein function loss often correlated with more severe clinical presentations, no significant difference in clinical scoring was observed (P = 0.600). Three patients treated with recombinant human growth hormone showed heterogeneous responses.InterpretationThis study highlights the clinical heterogeneity of CdLS and suggests a potential link between specific genetic variants and disease severity. These findings warrant further research to optimize treatments and better understand the functional impact of these genetic variants. 10.1002/ped4.70013 http://creativecommons.org/licenses/by/4.0/ |
| doi_str_mv | 10.1002/ped4.70013 |
| format | Artículo Open Access |
| id | wiley_oa_10_1002_ped4_70013 |
| institution | Wiley Open Access |
| license_str_mv | http://creativecommons.org/licenses/by/4.0/ |
| publishDate | 2025 |
| publisher | Wiley |
| record_format | wiley_oa |
| spellingShingle | Clinical and genetic characteristics of Cornelia de Lange syndrome in pediatric patients Xiaoqiao Li Ming Cheng Min Liu Wenjing Li Yuchuan Li Bingyan Cao Liya Wei Yuan Ding Xi Meng Lele Li Chunxiu Gong Pediatric Investigation Clinical and genetic characteristics of Cornelia de Lange syndrome in pediatric patients Xiaoqiao Li Ming Cheng Min Liu Wenjing Li Yuchuan Li Bingyan Cao Liya Wei Yuan Ding Xi Meng Lele Li Chunxiu Gong Pediatric Investigation ABSTRACTImportanceCornelia de Lange syndrome (CdLS) is a rare genetic disorder characterized by a spectrum of developmental and physical anomalies. Understanding the clinical and genetic landscape of CdLS in pediatric patients is crucial for improving diagnosis and management.ObjectiveTo investigate the clinical and genetic characteristics of 19 pediatric patients with CdLS in China, with a focus on identifying the association between genetic variants and clinical severity.MethodsWe performed whole exome sequencing on 19 patients with CdLS and compared their clinical characteristics based on the presence of null variants.ResultsAmong the 19 patients, 16 (84.2%) showed global developmental delays and 14 (73.7%) experienced prenatal growth retardation and short stature. Craniofacial anomalies–short noses and anteverted nares were observed in 94.7% (18/19) of patients. Small hands and/or feet were present in 16 patients, skin manifestations (hirsutism or mottled skin) in six, and hearing loss in four. Genetic testing identified 19 variants in NIPBL (78.9%, 15/19), SMC1A (10.5%, 2/19), and RAD21 (10.5%, 2/19), including 13 novel variants. NIPBL null variants correlated significantly with more severe growth impairments (P = 0.016) and microcephaly (P = 0.004). Although complete protein function loss often correlated with more severe clinical presentations, no significant difference in clinical scoring was observed (P = 0.600). Three patients treated with recombinant human growth hormone showed heterogeneous responses.InterpretationThis study highlights the clinical heterogeneity of CdLS and suggests a potential link between specific genetic variants and disease severity. These findings warrant further research to optimize treatments and better understand the functional impact of these genetic variants. 10.1002/ped4.70013 http://creativecommons.org/licenses/by/4.0/ |
| title | Clinical and genetic characteristics of Cornelia de Lange syndrome in pediatric patients |
| topic | Pediatric Investigation |
| url | https://onlinelibrary.wiley.com/doi/10.1002/ped4.70013 |