Familial SYN1 variants related neurodevelopmental disorders in Asian pediatric patients
| العنوان: | Familial SYN1 variants related neurodevelopmental disorders in Asian pediatric patients |
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| المؤلفون: | Miriam Kessi, Jing Peng, Xiaolu Deng, Haolin Duan, Shimeng Chen, Ciliu Zhang, Fei Yin, Fang He, Juan Xiong, Li Yang |
| المصدر: | BMC Medical Genomics BMC Medical Genomics, Vol 14, Iss 1, Pp 1-9 (2021) |
| بيانات النشر: | BioMed Central, 2021. |
| سنة النشر: | 2021 |
| مصطلحات موضوعية: | Proband, Pediatrics, medicine.medical_specialty, QH426-470, Asymptomatic, Axonogenesis, Loss-of-function, 03 medical and health sciences, Reflex seizure, 0302 clinical medicine, Genotype, Genetics, Medicine, Gender differences, Internal medicine, Genetics (clinical), Loss function, 030304 developmental biology, 0303 health sciences, business.industry, Research, Variants, SYN1, medicine.disease, RC31-1245, Phenotype, Human genetics, Neurodevelopmental Disorders, medicine.symptom, business, 030217 neurology & neurosurgery |
| الوصف: | Background SYN1 encodes synapsin I, which is a neuronal phosphoprotein involving in regulating axonogenesis and synaptogenesis. Variants in the gene have been associated with X-linked neurodevelopmental disorders in recent years. Methods In the study, we reported two male patients with familial SYN1 variants related neurodevelopmental disorders from Asian population. Previously published cases with significant SYN1 variants from the literature were also included to analyze the phenotype and genotype of the disorder. Results Two maternally inherited SYN1 variants, including c.C1076A, p.T359K in proband A and c.C1444T, p. Q482X in proband B (NM_133499) were found, which have never been described in detail. Combining with our research, all reported probands were male in the condition, whose significant SYN1 variants were inherited from their asymptomatic or mild affected mother. Although the disorder encompasses three main clinical presentations: mental deficiency, easily controlled reflex seizure and behavior problems, patients’ clinical manifestations vary in genders and individuals, even in the same pedigree. Conclusion We firstly reported two familial SYN1-related neurodevelopmental disorders in Asian pediatric patients. Gender and phenotype differences should be highly valued in the disorder. |
| اللغة: | English |
| تدمد: | 1755-8794 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1008e9ee7b18741ec328f1bfc6e25fa8Test http://europepmc.org/articles/PMC8272254Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....1008e9ee7b18741ec328f1bfc6e25fa8 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 17558794 |
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