Acknowledgments
The authors appreciate the participation of the patient and the parents for this study. We thank Maggie Huang for language editing.
Authors’contributions
WLL and MXL: study design, data analysis and manuscript writing. JW and ZLQ: study design and data analysis, LXL and JSL: collection of the clinical samples and clinical evaluation of the patients. JSS and SJZ: sequencing data analysis. SY and HYZ:bioinformatics analysis. LMH and YCL: genomic DNA extraction. SY and BBX: MLPA anlysis. XYG and YPS: study design, data analysis, clinical evaluation of the patients and manuscript revision. All authors read and approved the final manuscript.
Funding
This work is partially supported by the “Eastern Scholar” Fund; the “Guangxi Bagui Scholar” fund; the Natural Science Foundation of China [Grant No.81873633]; National key research and development program (2018YFC1002501), the Major Research Plan of the Provincial Science and Technology Foundation of Guangxi (Grant No.AB16380214) and“YUMIAOJIHUA” Project of The Maternal & Child Health Hospital of Guangxi Zhuang Autonomous Region (GXWCH-YMJH-2017005); the National Natural Science Foundation of China No. 81702919 and Guangxi Natural Science Foundation No. 2017JJB10161, the Guangxi Natural Science Foundation under Grant No. 2016GXNSFBA380191.
Availability of data and materials
The datasets are available upon request.
Ethics approval and consent to participate
This work was approved by the ethics committee of Guangxi Maternal and Child Health Hospital. Written informed consent was obtained from the family.
Consent for publication
Consent for publication was obtained from all participants.
Competing interests
The authors declare no conflict of interest.
Author details
a Genetic and Metabolic Central Laboratory, Birth Defect Prevention Research Institute, Maternal and Child Health Hospital, Children’s Hospital of Guangxi Zhuang Autonomous Region, Nanning, 530002 China.
b Department of Medical Genetics and Molecular Diagnostic Laboratory, Shanghai Children’s Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, 200127, China
c Division of Genetics and Genomics, Boston Children’s Hospital; Department of Neurology, Harvard Medical School, Boston, Massachusetts, 02115 USA.
d Department of Neonatology, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning 530003, Guangxi, China.