Variants validation
To elucidate the disease-causing genes, we obtained venous whole blood
samples from the individual and her parents for whole-exome and
mitochondrial genomic sequencing. According to the instructions of the
manufacturer, the patient’s and parents’ DNA were extracted using the
DNA extraction kit
(Beyotime
Biotechnology, China). Whole-exome and mitochondrial genomic sequencing
were performed by Aegicare (China). The candidate disease-causing gene
was screened according to the criteria mentioned before (Richards et
al., 2015). Total DNA extracted from patient and the parents was
amplified by 2×Taq Master Mix (Vazyme, China) according to the
manufacturer’s instruction, and the variants were verified by sanger
sequencing. The primers are as follows: DupT-F: TTTGTTTACT
GTCCTATCTTAAGCAC, dupT-R: ACCTGATTAGGAGGATTGTTGC, 82-2-F: AAG CCAATGT
CTAACAGATAAT, 82-2-R: CTTGTTTCCCCCATTCTT. Then segregation study was
performed base on the mendelian law.