The spectrum of CYP21A2 mutations in Congenital Adrenal Hyperplasia in an Indian cohort

Khajuria, Ragini; Walia, Rama; Bhansali, Anil; Prasad, Rajendra

doi:10.1016/j.cca.2016.11.037

Cited by 27 publications

(27 citation statements)

References 22 publications

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“…In this study, the phenotypes of patients were discussed through biochemical detection, and then genotype correlation analysis was conducted in combination with phenotype.Among the 22 children in this study, all of the22 children were SW type but no NC form was found. It has been reported that SW and SV forms accounted for the major part of patients, and the results of this study were similar to other domestic studies [15,17], but different from the results in France, Spain and Indian [8][9][10].It may suggest the existence of racial differences. It is also possible that the NC patients are late-onset and have mild symptoms and go to an adult hospital for treatment instead of children's hospital.…”

Section: Discussioncontrasting

confidence: 55%

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The spectrum of CYP21A2 gene mutations in patients with 2l-hydroxylase deficiency -induced congenital adrenal hyperplasia in a Chinese cohort

Y¹,

Zheng²,

Xu³

et al. 2020

Preprint

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Background 21-hydroxylase deficiency (21-OHD) caused by the CYP21A2 gene mutations is the most popular form of congenital adrenal hyperplasia. It is an autosomal recessive disorder results in the defective synthesis of cortisol and aldosterone. The incidences of various CYP21A2 gene mutations and the genotype-phenotype correlations vary among different populations. Therefore, the aim of current study was to identify the spectrum of CYP21A2 gene mutations of patients from northern China and analyze the genotype-phenotype correlation.Methods The clinical and molecular data of 22 patients were analyzed in this study. Locus-specific polymerasechain reaction and Sanger sequencing were applied to identify gene micro-conversions, and multiplex ligation-dependent probe amplification as an alternative to Southern blotting was used to detect large fragment deletions/conversions. Then the genotypes were categorized in to Null, A, B, C and D groups to analyze the relationships between genotypes and phenotypes.Results Molecular defects were detected in 44 alleles (100%). Micro-conversion mutation IVS2-13A/C> G (70.5%) is most common in our cohort, followed by large gene deletions and conversions (22.7%).The other mutations present were p.R357W (4.5%) and E6 Cluster (2.3%). Genotypes of 22 patients (100%) were consistent with the predictive phenotypes.Conclusions In this study, we collected 22 21-OHD patients' clinical and mutations data in Chinese population, especially in northern China. Micro-conversions were the most popular mutations and the frequencies were consistent with other cohorts. Moreover, thegenotypes and phenotypes in 21-OHDwere well correlated. This studyidentifiedthe mutation spectrum of CYP21A2gene and conduced to genetic counseling and prenatal diagnosis.

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Section: Discussioncontrasting

confidence: 55%

“…Multiplex ligation-dependent probe amplification (MLPA) can avoid the shortcomings and can be an alternative to Southern blotting [6][7]. The spectrum of mutations of 21-OHD has been established in many areas of world [8][9][10][11][12][13], but the frequency of the mutations varies in different regions and races.…”

Section: Introductionmentioning

confidence: 99%

The spectrum of CYP21A2 gene mutations in patients with 2l-hydroxylase deficiency -induced congenital adrenal hyperplasia in a Chinese cohort

Y¹,

Zheng²,

Xu³

et al. 2020

Preprint

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“…One patient with salt wasting CAH had Down syndrome. Genetic analysis was performed in thirty patients ( 16 ).…”

Section: Resultsmentioning

confidence: 99%

Disorders of sex development: a study of 194 cases

Walia

Singla

Vaiphei

et al. 2018

Endocrine Connections

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ObjectiveTo study the clinical proﬁle and the management of patients with disorders of sex development (DSD).Design and settingRetrospective study from a tertiary care hospital of North India.Methods and patientsOne hundred ninety-four patients of DSD registered in the Endocrine clinic of Postgraduate Institute of Medical Education and Research, Chandigarh between 1995 and 2014 were included.ResultsOne hundred and two patients (52.5%) had 46,XY DSD and seventy-four patients (38.1%) had 46,XX DSD. Sex chromosome DSD was identified in seven (3.6%) patients. Of 102 patients with 46,XY DSD, 32 (31.4%) had androgen insensitivity syndrome and 26 (25.5%) had androgen biosynthetic defect. Of the 74 patients with 46,XX DSD, 52 (70.27%) had congenital adrenal hyperplasia (CAH) and eight (10.8%) had ovotesticular DSD. Five patients with sex chromosome DSD had mixed gonadal dysgenesis. Excluding CAH, majority of the patients (90%) presented in the post-pubertal period. One-fourth of the patients with simple virilising CAH were reared as males because of strong male gender identity and behaviour and firm insistence by the parents. Corrective surgeries were performed in twenty patients (20%) of 46,XY DSD without hormonal evaluation prior to the presentation.ConclusionCongenital adrenal hyperplasia is the most common DSD in the present series. Most common XY DSD is androgen insensitivity syndrome, while CAH is the most common XX DSD. Delayed diagnosis is a common feature, and corrective surgeries are performed without seeking a definite diagnosis.

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“…Congenital Adrenal Hyperplasia (CAH, OMIM #201910) is an inborn error of metabolism which describes a group of autosomal recessive disorder, characterized by the enzyme defects in the steroidogenic pathway [2] . Molecular analysis of CYP21A2 gene is of utmost importance to for the clinical diagnosis [3] .…”

Section: Datamentioning

confidence: 99%

Data on the functional consequences of the mutations identified in 21-Hydroxylase deficient CAH patients

et al. 2018

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This article presents the data set regarding the functional characterization of mutations in CYP21A2 gene in CAH patients as described in “Functional characterization and molecular modeling of the mutations in CYP21A2 gene from patients with Congenital Adrenal Hyperplasia (Khajuria et al., 2018) [1]. This data set features about the identification of mutations and their functional characterization by bioinformatic tools (mutation severity prediction softwares). Molecular modeling enabled us to locate the site of the amino-acid residues in 3-Dimensional model of 21-Hydroxylase protein which were mutated in patients.

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The spectrum of CYP21A2 mutations in Congenital Adrenal Hyperplasia in an Indian cohort

Cited by 27 publications

References 22 publications

The spectrum of CYP21A2 gene mutations in patients with 2l-hydroxylase deficiency -induced congenital adrenal hyperplasia in a Chinese cohort

The spectrum of CYP21A2 gene mutations in patients with 2l-hydroxylase deficiency -induced congenital adrenal hyperplasia in a Chinese cohort

Disorders of sex development: a study of 194 cases

Data on the functional consequences of the mutations identified in 21-Hydroxylase deficient CAH patients

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