دورية أكاديمية
Genotype and Phenotype of 21-Hydroxylase Deficiency: A Single Center Experience from Western India.
| العنوان: | Genotype and Phenotype of 21-Hydroxylase Deficiency: A Single Center Experience from Western India. |
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| المؤلفون: | Karlekar M; Department of Endocrinology, Seth G.S. Medical College and KEM Hospital, Mumbai, Maharashtra, India., Barnabas R; Department of Endocrinology, Seth G.S. Medical College and KEM Hospital, Mumbai, Maharashtra, India., Sarathi V; Department of Endocrinology, Vydehi Institute of Medical Sciences and Research Centre, Bangalore, Karnataka, India., Lila A; Department of Endocrinology, Seth G.S. Medical College and KEM Hospital, Mumbai, Maharashtra, India. Correspondence to: Dr. Anurag Lila, Department of Endocrinology, 103, 1st floor, OPD building, KEM Hospital, Mumbai, Maharashtra, India. anuraglila@gmail.com., Arya S; Department of Endocrinology, Seth G.S. Medical College and KEM Hospital, Mumbai, Maharashtra, India., Hegishte S; Department of Endocrinology, Seth G.S. Medical College and KEM Hospital, Mumbai, Maharashtra, India., Bhandare VV; Department of Microbiology, Shivaji University, Kolhapur, Maharashtra, India., Memon SS; Department of Endocrinology, Seth G.S. Medical College and KEM Hospital, Mumbai, Maharashtra, India., Patil V; Department of Endocrinology, Seth G.S. Medical College and KEM Hospital, Mumbai, Maharashtra, India., Bandgar T; Department of Endocrinology, Seth G.S. Medical College and KEM Hospital, Mumbai, Maharashtra, India., Kunwar A; Department of Biosciences and Bioengineering, Indian Institute of Technology Bombay, Powai, Mumbai, Maharashtra, India., Shah N; Department of Endocrinology, Seth G.S. Medical College and KEM Hospital, Mumbai, Maharashtra, India. |
| المصدر: | Indian pediatrics [Indian Pediatr] 2024 Jul 23. Date of Electronic Publication: 2024 Jul 23. |
| Publication Model: | Ahead of Print |
| نوع المنشور: | Journal Article |
| اللغة: | English |
| بيانات الدورية: | Publisher: Indian Pediatrics Country of Publication: India NLM ID: 2985062R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 0974-7559 (Electronic) Linking ISSN: 00196061 NLM ISO Abbreviation: Indian Pediatr Subsets: MEDLINE |
| أسماء مطبوعة: | Publication: New Delhi : Indian Pediatrics Original Publication: Bombay. |
| مستخلص: | Objective: To describe the genotype-phenotype characteristics of patients with 21-hydroxylase deficiency from western India and ascertain the prevalence of various phenotypes of 21-hydroxylase deficiency. Methods: Patients with 21-hydroxylase deficiency, diagnosed clinically and biochemically, were prospectively enrolled and classified into salt wasting (SW), simple virilizing (SV), and non-classic (NC) phenotypes and were subjected to genetic testing of CYP21A2 by targeted sequencing and multiplex ligation-dependent probe amplification (MLPA). Results: Eighty (64; 46, XX) probands with 21-hydroxylase deficiency were analyzed. 41 had SW, 34 had SV, and 5 had NC phenotype. Disease-causing mutations were identified in 158/160 alleles. The common mutations were Deletions/Large Gene Conversions (Del/LGC, 25.6%), p.293-13A/C>G (22.5%), and p.Ile173Asn(18.75%). Exon 6 cluster mutations (Ile236Asn, Val237Glu, Met238Lys) and p.Val282Leu were absent. c.-113G>A+p.Pro31Leu (6.87%) and p.Phe405Ser (2.5%) were rare recurrent mutations with a possible founder effect. Two novel variants (Exon 1, p.Leu49Arg, Exon 8, p.Leu362Ter) were identified and were estimated to have low enzyme activity (<2%). Conclusion: Del/LGC were the most common mutations identified. The c.-113G>A+p.Pro31Leu and p.Phe405Ser were recurrent variants with possible founder effect. This study also reiterates the low prevalence of NC CAH in Indian cohorts. |
| تواريخ الأحداث: | Date Created: 20240725 Latest Revision: 20240725 |
| رمز التحديث: | 20240726 |
| PMID: | 39051316 |
| قاعدة البيانات: | MEDLINE |
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