NM_000102.4(CYP17A1):c.1243+5G>A AND Complete combined 17-alpha-hydroxylase/17,20-lyase deficiency

Significance: Pathogenic
ClinVar: RCV000001859

Variant: NM_000102.4(CYP17A1):c.1243+5G>A

Type: Variant
Allele: NM_000102.4(CYP17A1):c.1243+5G>A 16825
Type: single nucleotide variant
Location: Chr10: 102831503 - assembly GRCh38
Chr10: 104591260 - assembly GRCh37
References: OMIM: 609300.0011
dbSNP: 1564777724


Disease: Complete combined 17-alpha-hydroxylase/17,20-lyase deficiency


    Yamaguchi et al. (1997) sequenced the CYP17 gene from a Japanese patient with combined complete 17-alpha-hydroxylase/17,20-lyase deficiency (202110) previously reported by Yazaki et al. (1982). The patient was homozygous for a G-to-A transition at position +5 of the 5-prime splice site of intron 7. In vitro expression analysis of an allelic minigene containing exons 6-8 of the mutant gene showed skipping of exon 7. This exon skipping alters the translational reading frame of exon 8 and introduces a premature stop codon at amino acid position 410, proximal to the heme iron-binding site essential for the enzymatic activity of CYP17. Restriction enzyme analysis showed that the patient was homozygous and the parents were heterozygous for the mutation.
PMID:6976525, PMID:9177409