Two novel CYP11B1 mutations in congenital adrenal hyperplasia due to steroid 11β hydroxylase deficiency in a Tunisian family

Charfeddine, Ilhem Ben; Riepe, Felix G.; Kahloul, N.; Kulle, Alexandra; Adala, Labiba; Mamaï, Ons; Amara, Abdelbasset; Mili, Ali; Amri, F.; Saâd, Ali; Holterhus, Paul‐Martin; Gribaa, Moez

doi:10.1016/j.ygcen.2011.12.017

Cited by 24 publications

(14 citation statements)

References 19 publications

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“…Su expresión típica es una hiperpigmentación en pliegues de flexión dorsales de las manos, pies, codos, cicatrices y en las encías (16,18), compatible con los hallazgo al examen físico en el caso.…”

Section: Discussionunclassified

Manejo con cinco antihipertensivos en paciente con pubertad precoz. Reporte de caso

Ruiz-Rivera

Mendoza-Rojas

2018

iatreia

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Section: Discussionunclassified

Manejo con cinco antihipertensivos en paciente con pubertad precoz. Reporte de caso

Ruiz-Rivera

Mendoza-Rojas

2018

iatreia

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“…Đột biến A368D làm giảm 1,17% hoạt tính của 11-deoxycortisol , đột biến R43Q làm hoạt tính 11-hydroxylase giảm từ 30-50% (Barr et al, 2006), đột biến L22P giảm 1,6% hoạt tính enzyme… Ngoài ra, khi kết hợp phân tích chức năng enzyme bằng tạo đột biến điểm trực tiếp và cấu trúc không gian sẽ cho chúng ta có hiểu biết sâu về mối quan hệ giữa cấu trúc và chức năng của enzyme (Bảng 2). Các đột biến xuất hiện trên toàn bộ 9 exon nhưng thường gặp trên exon 6 và exon 8 (Chabraoui et al, 2010;Kharrat et al, 2010;Parajes et al, 2010;Ye et al, 2010;Wu et al, 2011;Ben Charfeddine et al, 2012;Carvajal et al, 2012;Melcescu et al, 2012;Nguyen et al, 2012;Xu et al, 2012;Abbaszadegan et al, 2013;Alvarez-Madrazo et al, 2013;Menabo et al, 2013;M. Zhang et al, 2013;Kamrath et al, 2014;Kaynar et al, 2014;Matsubara et al, 2014;Polat et al, 2014;Alqahtani et al, 2015;Menabo et al, 2015;Mooij et al, 2015;Nguyen et al, 2015).…”

Section: Tình Hình Nghiên Cứu Bệnh Thiếu Hụt 11β-hydroxylaseunclassified

11β-hydroxylase deficiency disorders

Phương

Hải

Hoàng

2018

Vietnam J. Biotechnol.

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Congenital adrenal hyperplasia (CAH) is a family of autosomal recessive disorders which is characterized by a deficiency of one of the enzymes involved in the synthesis of cortisol from cholesterol by the adrenal cortex. 90% CAH patients respond to 21-hydroxylase deficiency. Less causes include deficiencies of 11β-hydroxylase (11-OH), 17- hydroxylase (17-OH), 3β- hydroxysteroid dehydrogenase (3β- HSD), 20/22 Desmolase etc.. Because of the blocked enzymatic steps, cortisol precursors usually presents with signs of androgen excess which are secreted and cause in masculinization of female external genital, hyponatremia, hyperkalemia and hypovolemia in the classic form due to 21-hydroxylase deficiency. By the early 1950s, it was recognized that in some CAH patients with hypertension develops. This symptom responds to glucorticoid replacement. Most of these patients have an 11β-hydroxylase deficiency. CAH cases arise from 11β-hydroxylase impaired is the second most common form. Mutations in the CYP11B1 gene are the cause of 11β-hydroxylase deficiency. The incident of 11β-hydroxylase deficiency is about 5% to 8% of cases with CAH, in approximately 1/100,000 live birth. Mutations have been detected from different ethnic backgrounds with the highest incidence in group of Morrocan Jews. This article reviews function of enzyme 11β-hydroxylase in cortisol synthesis of andrenal cortex, structure of CYP11B1 gene, diagnosis and treatment of 11β-hydroxylase deficiency and summarised of researching in Wordwild and in Vietnam. Genetic characterization of CYP11B1 genotype has improved our understanding of the phenotype differences in patients. This could be serve as a the basis for genetic counseling and prenatal diagnosis in the future.

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“…Primary adrenal insufficiency (PAI) can be acquired or congenital, the acquired group including infectious, traumatic, or drug-induced causes. Congenital PAI encompasses disorders such as congenital adrenal hyperplasia (CAH) ( 2 – 4 ), familial glucocorticoid deficiency (FGD) ( 5 ), and autoimmune polyglandular syndrome type I (APS-1) ( 6 ) as well as many others (listed in Table 1 ).…”

Section: Introductionmentioning

confidence: 99%

Whole-Exome Sequencing in the Differential Diagnosis of Primary Adrenal Insufficiency in Children

et al. 2015

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Adrenal insufficiency is a rare, but potentially fatal medical condition. In children, the cause is most commonly congenital and in recent years a growing number of causative gene mutations have been identified resulting in a myriad of syndromes that share adrenal insufficiency as one of the main characteristics. The evolution of adrenal insufficiency is dependent on the variant and the particular gene affected, meaning that rapid and accurate diagnosis is imperative for effective treatment of the patient. Common practice is for candidate genes to be sequenced individually, which is a time-consuming process and complicated by overlapping clinical phenotypes. However, with the availability, and increasing cost effectiveness of whole-exome sequencing, there is the potential for this to become a powerful diagnostic tool. Here, we report the results of whole-exome sequencing of 43 patients referred to us with a diagnosis of familial glucocorticoid deficiency (FGD) who were mutation negative for MC2R, MRAP, and STAR the most commonly mutated genes in FGD. WES provided a rapid genetic diagnosis in 17/43 sequenced patients, for the remaining 60% the gene defect may be within intronic/regulatory regions not covered by WES or may be in gene(s) representing novel etiologies. The diagnosis of isolated or familial glucocorticoid deficiency was only confirmed in 3 of the 17 patients, other genetic diagnoses were adrenal hypo- and hyperplasia, Triple A, and autoimmune polyendocrinopathy syndrome type I, emphasizing both the difficulty of phenotypically distinguishing between disorders of PAI and the utility of WES as a tool to achieve this.

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Two novel CYP11B1 mutations in congenital adrenal hyperplasia due to steroid 11β hydroxylase deficiency in a Tunisian family

Cited by 24 publications

References 19 publications

Manejo con cinco antihipertensivos en paciente con pubertad precoz. Reporte de caso

Manejo con cinco antihipertensivos en paciente con pubertad precoz. Reporte de caso

11β-hydroxylase deficiency disorders

Whole-Exome Sequencing in the Differential Diagnosis of Primary Adrenal Insufficiency in Children

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