Molecular diagnosis of two families with classic congenital adrenal hyperplasia.

摘要: Abstract We investigated the genetic defects in two families with classic congenital adrenal hyperplasia (CAH). Clinical data and vein blood of family members were collected, hormonal evaluation, karyotype analysis, ultrasound CT scans performed, a direct-sequencing PCR products candidate genes was used to identify mutations. In A, Patients A-II:1 A-II:2 found be compound heterozygous state for mutations p.I172N (g.1004 T > A) exon 4 IVS2-13A/C > G (g.659A/C > G) intron 2 CYP21A2 gene, their father A-I:1 mother A-I:2 carry mutation respectively. B, Patient B-II:1 detected only one p.I172N; no other CYP11B1, CYP17A1 or HSD3B2 detected. Her B-I:1 carried her B-I:2 wild type all genes. Obviously, patients inherited (g.1004 T > A)-bearing maternal allele (g.659A/C > G)-bearing paternal allele. And this kind caused simple virilising (SV) CAH. While patient B-II:1, whose phenotype SV CAH too, allele, needed further studies.