[Genetic mutation analysis of a kindred with a patient suffering from 17 alpha-hydroxylase/17, 20-lyase deficiency].
OBJECTIVE
To detect CYP17A1 gene mutation in a patient with 17 alpha-hydroxylase/17, 20-lyase deficiency and her family members.


METHODS
Genomic DNA was extracted from the blood of the patient, her parents and twin sister. The 8 exons of CYP17A1 gene were amplified with polymerase chain reaction (PCR) and screened for mutations by sequencing.


RESULTS
The analysis revealed that the patient was a compound heterozygote carrying two different inherited point mutations on CYP17A1 gene. They were nt186delC on exon 1 and nt1085G > A on exon 6. This type of mutation could induce 17OHD because of complete loss of 17 alpha-hydroxylase activities. And her parents and the twin sister were carriers on CYP17A1 gene. In addition, the mutation nt186delC was a novel point mutation and it was not discovered in normal children.


CONCLUSIONS
A new compound heterozygote carrying two different inherited point mutations on CYP17A1 gene was found, and her parents and twin sister were carriers. This is probably the first report in the world of a twin sisters of whom one is a patient with 17OHD and the other is a carrier of CYP17A1 gene mutation.
Chen
Ye
Y
Department of Pediatrics, Ruijin Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai 200025, China.
Wang
Wei
W
Wang
Xiu-min
XM
Dong
Zhi-ya
ZY
Xiao
Yuan
Y
Ni
Ji-hong
JH
Wang
De-fen
DF
D000312:Adrenal Hyperplasia, Congenital / Q000235:genetics*; D002648:Child; D004252:DNA Mutational Analysis; D005091:Exons; D005260:Female; D006579:Heterozygote; D006801:Humans; D008297:Male; D010375:Pedigree; D017354:Point Mutation; D013254:Steroid 17-alpha-Hydroxylase / Q000235:genetics*
D013254:Steroid 17-alpha-Hydroxylase