[NEDD4L基因变异导致的7型脑室周围结节性异位症患者的临床与遗传学分析]
[Clinical and genetic analysis of a patient with periventricular nodular heterotopia 7 caused by NEDD4L gene variant].
作者信息
Ma Jian, Gao Junying, Zhang Kaihui, Lyu Yuqiang, Gao Min, Wang Dong, Gai Zhongtao, Liu Yi
机构信息
Jinan Pediatric Research Institute, Qilu Children's Hospital of Shandong University, Ji'nan, Shandong 250022, China.
出版信息
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.
OBJECTIVE
To explore the genetic basis of a patient featuring global developmental delay, intellectual disability, cleft palate, seizures and hypotonia.
METHODS
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.
RESULTS
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.
CONCLUSION
The heterozygous variant of c.2117T>C (p.Leu706Pro) of the NEDD4L gene probably underlies the disorders in the patient.
目的
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。
方法
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。
结果
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。
结论
NEDD4L基因的c.2117T>C（p.Leu706Pro）杂合变异可能是该患者疾病的基础。
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