PMC9532011_01
(A) Family pedigree; the arrow indicates the proband. (B) The homozygous GCH1 c.604G > A variant detected in the patient (p); the parents were heterozygous for this mutation (f,m). The figure shows reverse strand verification. (C) The conserved reside corresponding to the site of the missense variant is shown in red.
fgene-13-929069-g001.jpg
PMC9532011_01_fgene-13-929069-g001.jpg
F1
Both parents, who were asymptomatic, were heterozygous for this mutation (Figure 1).