Simple Virilizing Congenital Adrenal Hyperplasia: A case Report of Sudanese 46, XY DSD male with G293D variant in CYP21A2

Ellaithi, Mona; Piscina, Idoia Martinez de la; Hoz, Ana Belén de la; Nanclares, Gustavo Pérez de; Alasha, Marwah Abdelrahman; Hemaida, Maisa Aldai; Castaño, Luís

doi:10.2174/1874309901909010007

Cited by 2 publications

(3 citation statements)

References 42 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Except for Case 4, DNA samples of patients, in which only a single gene approach had been performed initially, were further analyzed by the targeted DSD gene panel including 48 genes [ 15 ]. Additional heterozygous variants in known DSD genes were found in three out of six (50%) 46,XY DSD NR5A1 carriers.…”

Section: Resultsmentioning

confidence: 99%

“…A targeted gene panel (TGP) was designed to include 48 genes associated with DSDs in online databases, including PubMed ( ), Human Gene Mutation Database (HGMD, ) and Online Mendelian Inheritance in Man (OMIM, ) [ 15 ]. Libraries were prepared according to the manufacturer’s instructions and samples were sequenced using the Ion PGM platform (Thermo Fisher Scientific, Waltham, MA, USA).…”

Section: Methodsmentioning

confidence: 99%

“…We performed functional characterization of novel, possibly disease-causing variants. Additionally, individuals were investigated with a targeted gene panel including 48 DSD genes to search for a second hit that may contribute to their phenotype [ 15 ]. Finding likely disease-causing variants in known DSD genes in 50% of studied cases suggests that digenic inheritance may explain the variable phenotypic expression observed in these patients with heterozygous NR5A1 variants.…”

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

Variants of STAR, AMH and ZFPM2/FOG2 May Contribute towards the Broad Phenotype Observed in 46,XY DSD Patients with Heterozygous Variants of NR5A1

Piscina

Mahmoud

Sauter

et al. 2020

IJMS

Self Cite

View full text Add to dashboard Cite

Variants of NR5A1 are often found in individuals with 46,XY disorders of sex development (DSD) and manifest with a very broad spectrum of clinical characteristics and variable sex hormone levels. Such complex phenotypic expression can be due to the inheritance of additional genetic hits in DSD-associated genes that modify sex determination, differentiation and organ function in patients with heterozygous NR5A1 variants. Here we describe the clinical, biochemical and genetic features of a series of seven patients harboring monoallelic variants in the NR5A1 gene. We tested the transactivation activity of novel NR5A1 variants. We additionally included six of these patients in a targeted diagnostic gene panel for DSD and identified a second genetic hit in known DSD-causing genes STAR, AMH and ZFPM2/FOG2 in three individuals. Our study increases the number of NR5A1 variants related to 46,XY DSD and supports the hypothesis that a digenic mode of inheritance may contribute towards the broad spectrum of phenotypes observed in individuals with a heterozygous NR5A1 variation.

show abstract

Section: Resultsmentioning

confidence: 99%

Section: Methodsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Variants of STAR, AMH and ZFPM2/FOG2 May Contribute towards the Broad Phenotype Observed in 46,XY DSD Patients with Heterozygous Variants of NR5A1

Piscina

Mahmoud

Sauter

et al. 2020

IJMS

Self Cite

View full text Add to dashboard Cite

show abstract

A Novel Homozygous Pathogenic Variant in CYP11B1 in a Female Iranian Patient with 11B Hydroxylase Deficiency

Hoseinzadeh

Molavi

Norouzi

et al. 2022

Laboratory Medicine

View full text Add to dashboard Cite

Objective Congenital adrenal hyperplasia (CAH) addresses a number of autosomal recessive disorders characterized by the enzyme defects in steroid hormones biosynthesis. The second common form of CAH is caused by mutations in the CYP11B1 gene. Here, we reveal a novel mutation in the CYP11B1 gene related to the 11βOHD phenotype. Methods and Results Sequence analysis of the CYP11B1 gene in a 19-year-old Iranian woman with the 11βOHD phenotype was performed. In silico analysis and molecular docking were done. A novel missense homozygous variant c.1351C > T (p.L451F) in the CYP11B1 gene was identified in the patient and, according to American College of Medical Genetics and Genomics criteria, was categorized as likely pathogenic. Protein docking showed destructive effects of the variant on the CYP11B1 protein-ligand interactions. Conclusion This study broadens the CYP11B1 mutation spectrum and introduces the novel p.L451F likely pathogenic variant leading to destructive effects on protein-ligand interactions. Our results provide reliable information for genetic counseling and molecular diagnostics of CAH.

show abstract

Simple Virilizing Congenital Adrenal Hyperplasia: A case Report of Sudanese 46, XY DSD male with G293D variant in CYP21A2

Cited by 2 publications

References 42 publications

Variants of STAR, AMH and ZFPM2/FOG2 May Contribute towards the Broad Phenotype Observed in 46,XY DSD Patients with Heterozygous Variants of NR5A1

Variants of STAR, AMH and ZFPM2/FOG2 May Contribute towards the Broad Phenotype Observed in 46,XY DSD Patients with Heterozygous Variants of NR5A1

A Novel Homozygous Pathogenic Variant in CYP11B1 in a Female Iranian Patient with 11B Hydroxylase Deficiency

Contact Info

Product

Resources

About