NM_000102.4(CYP17A1):c.1243+5G>A AND Complete combined 17-alpha-hydroxylase/17,20-lyase deficiency
| Significance: | Pathogenic |
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| ClinVar: | RCV000001859 |
Variant: NM_000102.4(CYP17A1):c.1243+5G>A |
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| Type: | Variant |
Allele: NM_000102.4(CYP17A1):c.1243+5G>A 16825 |
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| Gene: | CYP17A1 |
| Type: | single nucleotide variant |
| Location: |
Chr10: 102831503
- assembly
GRCh38 Chr10: 104591260 - assembly GRCh37 |
| References: | OMIM:
609300.0011 |
Condition |
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| Disease: | Complete combined 17-alpha-hydroxylase/17,20-lyase deficiency |
Citation |
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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 |
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