科伦-德弗里斯综合征：一种新的错义 KANSL1 变异。
Koolen-de Vries syndrome: A de novo missense KANSL1 variant.
机构信息
Department of Pediatric Neurology, Health Ministry Eskisehir City Hospital, Eskişehir, Turkey.
Department of Medical Genetics, Health Ministry Eskisehir City Hospital, Eskişehir, Turkey.
出版信息
Clin Neurol Neurosurg. 2022 Nov;222:107444. doi: 10.1016/j.clineuro.2022.107444. Epub 2022 Sep 16.
BACKGROUND
Koolen-de Vries syndrome is a rare genetic disorder marked by developmental and speech delays, intellectual disability, hypotonia, seizures, multiple congenital anomalies, and dysmorphic facial features. This syndrome is caused by microdeletions or loss-of-function mutations in the KANSL1 gene. KANSL1 encodes a nuclear protein that, via histone modification, regulates global transcription.
CASE
The patient was referred to our clinic due to a combination of intellectual disability, developmental delay, epilepsy, and dysmorphic facial features. A de novo missense heterozygous mutation c 0.1774 C > T (p.Arg592Trp) in the KANSL1 gene was discovered using trio whole exome sequencing.
CONCLUSION
This is the first case report of Koolen-de Vries syndrome in Turkey, to the best of our knowledge.
背景
科伦-德弗里斯综合征是一种罕见的遗传性疾病，其特征为发育迟缓、言语迟缓、智力障碍、肌张力减退、癫痫、多种先天性异常和面部畸形。该综合征由 KANSL1 基因的微缺失或功能丧失突变引起。KANSL1 编码一种核蛋白，通过组蛋白修饰调节全局转录。
病例
该患者因智力障碍、发育迟缓、癫痫和面部畸形等多种症状被转介至我们的诊所。通过对三人体外全基因组测序发现，KANSL1 基因中存在一个杂合错义突变 c 0.1774 C > T（p.Arg592Trp）。
结论
据我们所知，这是土耳其首例科伦-德弗里斯综合征的病例报告。
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