Table 4 Genetic sequencing results of the proband and her brother
From: Congenital adrenal hyperplasia with homozygous and heterozygous mutations: a rare family case report
Nucleotide changes | Gene subregion | Homozygous/heterozygous | Amino acid change | Pathogenicity analysis | Mutation source |
|---|---|---|---|---|---|
c.518T>A | CDS4 | homozygous | p.I173N | pathogenicity | patrents |
c.1451-1452delGGinsC | CDS10 | heterozygous | p.R484Pfs*58 | possibly pathogenicity | mother |