A Novel Mutation in the CYP11B1 Gene Causes Steroid 11β-Hydroxylase Deficient Congenital Adrenal Hyperplasia with Reversible Cardiomyopathy
Joint Authors
Shi, Yufei
Alqahtani, Mohammad A.
Shati, Ayed A.
Zou, Minjing
Alsuheel, Ali M.
Alhayani, Abdullah A.
Al-Qahtani, Saleh M.
Gilban, Hessa M.
Meyer, Brian F.
Source
International Journal of Endocrinology
Issue
Vol. 2015, Issue 2015 (31 Dec. 2015), pp.1-5, 5 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2015-07-22
Country of Publication
Egypt
No. of Pages
5
Main Subjects
Abstract EN
Congenital adrenal hyperplasia (CAH) due to steroid 11β-hydroxylase deficiency is the second most common form of CAH, resulting from a mutation in the CYP11B1 gene.
Steroid 11β-hydroxylase deficiency results in excessive mineralcorticoids and androgen production leading to hypertension, precocious puberty with acne, enlarged penis, and hyperpigmentation of scrotum of genetically male infants.
In the present study, we reported 3 male cases from a Saudi family who presented with penile enlargement, progressive darkness of skin, hypertension, and cardiomyopathy.
The elder patient died due to heart failure and his younger brothers were treated with hydrocortisone and antihypertensive medications.
Six months following treatment, cardiomyopathy disappeared with normal blood pressure and improvement in the skin pigmentation.
The underlying molecular defect was investigated by PCR-sequencing analysis of all coding exons and intron-exon boundary of the CYP11B1 gene.
A novel biallelic mutation c.780 G>A in exon 4 of the CYP11B1 gene was found in the patients.
The mutation created a premature stop codon at amino acid 260 (p.W260∗), resulting in a truncated protein devoid of 11β-hydroxylase activity.
Interestingly, a somatic mutation at the same codon (c.779 G>A, p.W260∗) was reported in a patient with papillary thyroid cancer (COSMIC database).
In conclusion, we have identified a novel nonsense mutation in the CYP11B1 gene that causes classic steroid 11β-hydroxylase deficient CAH.
Cardiomyopathy and cardiac failure can be reversed by early diagnosis and treatment.
American Psychological Association (APA)
Alqahtani, Mohammad A.& Shati, Ayed A.& Zou, Minjing& Alsuheel, Ali M.& Alhayani, Abdullah A.& Al-Qahtani, Saleh M.…[et al.]. 2015. A Novel Mutation in the CYP11B1 Gene Causes Steroid 11β-Hydroxylase Deficient Congenital Adrenal Hyperplasia with Reversible Cardiomyopathy. International Journal of Endocrinology،Vol. 2015, no. 2015, pp.1-5.
https://search.emarefa.net/detail/BIM-1065756
Modern Language Association (MLA)
Alqahtani, Mohammad A.…[et al.]. A Novel Mutation in the CYP11B1 Gene Causes Steroid 11β-Hydroxylase Deficient Congenital Adrenal Hyperplasia with Reversible Cardiomyopathy. International Journal of Endocrinology No. 2015 (2015), pp.1-5.
https://search.emarefa.net/detail/BIM-1065756
American Medical Association (AMA)
Alqahtani, Mohammad A.& Shati, Ayed A.& Zou, Minjing& Alsuheel, Ali M.& Alhayani, Abdullah A.& Al-Qahtani, Saleh M.…[et al.]. A Novel Mutation in the CYP11B1 Gene Causes Steroid 11β-Hydroxylase Deficient Congenital Adrenal Hyperplasia with Reversible Cardiomyopathy. International Journal of Endocrinology. 2015. Vol. 2015, no. 2015, pp.1-5.
https://search.emarefa.net/detail/BIM-1065756
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1065756