A novel homozygous mutation IVS6+5G>T in CYP11B1 gene in a Vietnamese patient with 11β-hydroxylase deficiency.
Congenital adrenal hyperplasia (CAH) is an autosomal recessive disease which is characterized by a deficiency of one of the enzymes involved in the synthesis of cortisol from cholesterol by the adrenal cortex. CAH cases arising from impaired 11β-hydroxylase are the second most common form. Mutations in the CYP11B1 gene are the cause of 11β-hydroxylase deficiency. This study was performed on a patient with congenital adrenal hyperplasia and with premature development such as enlarged penis, muscle development, high blood pressure, and bone age equivalent of 5 years old at 2 years of chronological age. Biochemical tests for steroids confirmed the diagnosis of CAH. We used PCR and sequencing to screen for mutations in CYP11B1 gene. Results showed that the patient has a novel homozygous mutation of guanine (G) to thymine (T) in intron 6 (IVS6+5G>T). The analysis of this mutation by MaxEntScan boundary software indicated that this mutant could affect the gene splicing during transcription.
Institute of Genome Research, Vietnam Academy of Science and Technology, Vietnam; Human Genetics Department, National Hospital of Pediatrics, Vietnam.
Thi Phuong Mai
TP
Nguyen
Institute of Genome Research, Vietnam Academy of Science and Technology, Vietnam.
Thu Hien
TH
Nguyen
Human Genetics Department, National Hospital of Pediatrics, Vietnam.
Diem Ngoc
DN
Ngo
Human Genetics Department, National Hospital of Pediatrics, Vietnam.
Chi Dung
CD
Vu
Institute of Genome Research, Vietnam Academy of Science and Technology, Vietnam.
Thi Kim Lien
TK
Nguyen
Institute of Genome Research, Vietnam Academy of Science and Technology, Vietnam.
Van Hai
VH
Nong
Institute of Genome Research, Vietnam Academy of Science and Technology, Vietnam. Electronic address: nhhoang@igr.ac.vn.
Huy Hoang
HH
Nguyen
D000312:Adrenal Hyperplasia, Congenital / Q000235:genetics* / Q000378:metabolism; D044466:Asian People / Q000235:genetics*; D006147:Guanine / Q000378:metabolism; D006720:Homozygote; D006801:Humans; D007438:Introns / Q000235:genetics; D008297:Male; D009154:Mutation / Q000235:genetics*; D013252:Steroid 11-beta-Hydroxylase / Q000235:genetics*; D013941:Thymine
D006147:Guanine; D013252:Steroid 11-beta-Hydroxylase; D013941:Thymine
11β-Hydroxylase; CYP11B1 gene; Congenital adrenal hyperplasia (CAH); IVS6+5G>T mutant; Splice site