FIGURE 1.

Compound heterozygous variants in the TMPRSS15 gene in a patient with enterokinase deficiency. (A) The variant c.1921G > A is located in exon 16 and the missense variant c.2396T > A represents a p.Val799Asp change in exon 21. The arrows indicate the heterozygous base. (B) Family pedigree: The arrow indicates the proband. The slash indicates that the individual was dead. The squares represent the proband, his older brother and his father, and the circle represents the mother.