Clinical and genetic analysis of a patient with periventricular nodular heterotopia 7 caused by NEDD4L gene variant
10.3760/cma.j.issn.1003-9406.2020.01.011
- VernacularTitle: 一例NEDD4L基因变异引起脑室旁结节状灰质异位7型患儿的临床与遗传学分析
- Author:
Jian MA
1
;
Junying GAO
2
;
Kaihui ZHANG
1
;
Yuqiang LYU
1
;
Min GAO
1
;
Dong WANG
1
;
Zhongtao GAI
1
,
3
;
Yi LIU
1
Author Information
1. Jinan Pediatric Research Institute, Qilu Children’s Hospital of Shandong University, Ji'nan, Shandong 250022, China
2. Institute of Pediatric Health Care, Qilu Children’s Hospital of Shandong University, Jinan, Shandong 250022, China
3. Institute of Pediatric Health Care, Qilu Children’s Hospital of Shandong University, Jinan, Shandong 250022, China
- Publication Type:Clinical Trail
- Keywords:
Periventricular nodular heterotopia 7;
NEDD4L gene;
Gene variant;
Next generation sequencing
- From:
Chinese Journal of Medical Genetics
2020;37(1):41-43
- CountryChina
- Language:Chinese
-
Abstract:
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.
