FIGURE 2.

Identification of a novel exon mutation in the SYCE1 gene of the NOA patient and his parents. (A) High‐throughput sequencing revealed a homozygous deletion mutation in the SYCE1 tenth exon, which leaded to premature termination of translation. Gene structure: exons, noncoding exons, intron, ‐‐‐‐omitted exons 3 to 8. Protein domains: disorder, coiled‐coil, low_complexity. Red characters indicate the mutant in the SYCE1 of the patient. (B) Sanger sequencing confirmed the homozygous mutation of SYCE1 (c.689_690del; p.F230fs) in the patient and heterozygous mutations among his parents. (C) The pedigree of the NOA patient is shown