Whole exon sequencing of homo sapiens: adult male venous blood
DNA was extracted from leukocytes in the peripheral blood of all enrolled family members using the QIAamp DNA Blood Mini kit (Qiagen, Hilden, Germany) according to the standard protocol. DNA in the blood of the proband was subjected to whole-exome sequencing using the SureSelect Human All ExonV6 kit (Agilent Technologies, Santa Clara, CA, US) for exome capture, and the Illumina Novaseq 6000 platform (Illumina Inc., San Diego, CA, US) was used for genomic DNA sequencing (paired-end, 150 bp).