Ma Jian, Gao Junying, Zhang Kaihui, Lyu Yuqiang, Gao Min, Wang Dong, Gai Zhongtao, Liu Yi
Jinan Pediatric Research Institute, Qilu Children's Hospital of Shandong University, Ji'nan, Shandong 250022, China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2020 Jan 10;37(1):41-43. doi: 10.3760/cma.j.issn.1003-9406.2020.01.011.
To explore the genetic basis of a patient featuring global developmental delay, intellectual disability, cleft palate, seizures and hypotonia.
Clinical examination and laboratory tests were carried out. Peripheral blood samples were obtained from the patient and his parents. Whole genomic DNA was extracted and subjected to next generation sequencing. Candidate variation was analyzed by using bioinformatic software and validated by Sanger sequencing.
The proband was found to carry a heterozygous c.2117T>C (p.Leu706Pro) variant of the NEDD4L gene, which was a de novo variant validated by Sanger sequencing and predicted to be likely pathogenic according to the American College of Medical Genetics Guidelines.
The heterozygous variant of c.2117T>C (p.Leu706Pro) of the NEDD4L gene probably underlies the disorders in the patient.
探究一名患有全面发育迟缓、智力残疾、腭裂、癫痫和肌张力减退的患者的遗传基础。
进行了临床检查和实验室检测。从患者及其父母处采集外周血样本。提取全基因组DNA并进行二代测序。使用生物信息学软件分析候选变异，并通过桑格测序进行验证。
先证者被发现携带NEDD4L基因的杂合c.2117T>C（p.Leu706Pro）变异，这是一个经桑格测序验证的新生变异，根据美国医学遗传学学会指南预测可能具有致病性。
NEDD4L基因的c.2117T>C（p.Leu706Pro）杂合变异可能是该患者疾病的基础。
