A novel homozygous deletion in cyp17a1 gene causes congenital adrenal hyperplasia in an iranian consanguineous families

Mohammad yahay Vahidi mehrjardi,1,* Majid nazari,2 Nosrat neghab,3 Mahdi aghabagheri,4 Somaue darzi,5 Nasrin ghasemi,6

1. Medical genetics research center, Shahid Sadoughi University of Medical Sciences, Yazd, Iran
2. Department of Medical Genetics, Shahid Sadoughi University of Medical Sciences, Yazd, Iran
3. Research and Clinical Center for Infertility, Shahid Sadoughi University of Medical Sciences, Yazd, Iran
4. Meybod Nursing School, Yazd, Iran
5. Department of Medical Genetics, Shahid Sadoughi University of Medical Sciences, Yazd, Iran
6. Research and Clinical Center for Infertility, Shahid Sadoughi University of Medical Sciences, Yazd, Iran

Abstract

Introduction

Congenital adrenal hyperplasia is a rare autosomal recessive disorder that mutation in p450 family 17 subfamily a member 1 gene (cyp17a1) involved in its etiology. the disorder represents itself by low blood levels of estrogens, androgens, and cortisol that generally pair with hypertension, hypokalemia, sexual infantilism and primary amenorrhea in affected individuals.

Methods

Sonographic survey uterus was infantile and karyotyping method was performed. genomic dna was isolated from peripheral blood leukocytes. all eight exons of cyp17a1 gene were multiplied by pcr. products were sequenced.

Results

The karyotype was normal (46, xx) and she had no clinical symptoms of turner syndrome. sanger sequence chromatogram of the cyp17a1 gene show a new in-frame homozygous deletion c.1052-1054cct in exon 6 (deletion of 351leu in protein and cct deletion on cdna sequence).

Conclusion

In this study, the cyp17a1 gene in a 14 years old female was examined. the karyotype of the patient was 46, xx and analysis of the cyp17a1 gene by sanger sequencing revealed a novel homozygous deletion led to leads to isolated 17,20-lyase deficiency and this mutation may be used for diagnosis in other patients with typical clinical symptoms.

Keywords

Congenital adrenal hyperplasia (cah), cyp17a1 gene, ambiguous genitalia.