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CYP11B1, 2-BP INS AND Deficiency of steroid 11-beta-monooxygenase

Significance: Pathogenic
ClinVar: RCV000001234

Variant: CYP11B1, 2-BP INS

Type: Variant
Allele: CYP11B1, 2-BP INS 16214
Gene:
Type: Insertion
References: OMIM: 610613.0005

Condition

Disease: Deficiency of steroid 11-beta-monooxygenase

Citation

    In an 8-year-old boy of Turkish origin, born of consanguineous parents, with congenital adrenal hyperplasia due to steroid 11-beta-hydroxylase deficiency (202010), Helmberg et al. (1992) identified a homozygous 2-bp insertion in codon 394 in exon 7 of the CYP11B1 gene, resulting in a frameshift and a premature stop in codon 469, resulting in complete destruction of the enzyme's heme-binding domain. The patient had marked hypertension, precocious pseudopuberty, and completely virilized intersexual genitalia with a 46,XX karyotype. Ultrasound examination disclosed adrenal hyperplasia and the existence of a uterus and vagina ending in the proximal urethra. Four sibs of the patient died shortly after birth or in early childhood.
PMID:1430088