Molecular Diagnosis of 46,XY DSD and Identification of a Novel 8 Nucleotide Deletion in Exon 1 of the SRD5A2 Gene
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M. R. Nagaraja
SUMMARY
Phenotypic presentation of 46,XY DSD depends on the underlying defects. Defect in androgen action on the target tissues or production of active metabolite share common morphological features. Molecular study may help differentiating these abnormalities with precision. Mutational analysis of androgen receptor (AR) and SRD5A2 genes was performed in 29 subjects with 46,XY DSD, by PCR-SSCP. The amplicons that showed an aberrant migration in SSCP were subjected to sequencing. Interestingly, six patients from 4 unrelated families (a pair of sibs, uncle/nephew and other two isolated) were identified with mutations in SRD5A2 gene. In five patients p.R246Q missense mutation was detected, of which four were homozygous and one was compound heterozygous: g.80_87delT CGCGAAG (p.A27fsX132) and p.R246Q. Another patient with isolated micropenis harbored a heterozygous p.G196S missense mutation. No AR gene mutation was detected. In conclusion, our study suggests that p.R246Q mutation is common amongst patients with SRD5A2 gene defect from the Northern states of India. Also, it records a novel deletion in exon 1 of SRD5A2 gene in a patient with severe hypospadias.
© Freund Publishing House Ltd.
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Articles in the same Issue
- Growth hormone (GH) testing nutrition and metabolic balance, do we have the full picture?
- Primary Aldosteronism and its Impact on the Generation of Arterial Hypertension, Endothelial Injury and Oxidative Stress
- Metaphyseal Condrodysplasia, Schmid-type, a Differential Diagnosis with Rickets
- Adiposity, Physical Activity and Blood Lipid Profile in 13-year-old Adolescents
- Relationship between Metabolic Parameters and Thyroid Hormones and the Level of Gastric Peptides in Children with Autoimmune Thyroid Diseases
- Stimulated Growth Hormone Concentrations in Obese Pediatric Patients with Mild and Severe Insulin Resistance: A Pilot Study
- Amiodarone-induced Thyrotoxicosis in Children and Adolescents is a Possible Outcome in Patients with Low Iodine Intake
- Analysis of Serum Adiponectin, Resistin and Leptin Levels in Children and Adolescents with Autoimmune Thyroid Disorders
- Molecular Diagnosis of 46,XY DSD and Identification of a Novel 8 Nucleotide Deletion in Exon 1 of the SRD5A2 Gene
- Can Auxology, IGF-I and IGFBP-3 Measurements Followed by MRI and Genetic Tests Replace GH Stimulation Tests in the Diagnosis of GH Deficiency in Children?
- Body Fat Measurements in Elite Adolescent Volleyball Players: Correlation between Skinfold Thickness, Bioelectrical Impedance Analysis, Air-displacement Plethysmography, and Body Mass Index Percentiles
- Autonomic Bladder Dysfunction in an Adolescent with Type 1 Diabetes
- Autoimune Thyroiditis and Diabetes Mellitus Type 1 after Long-term Gonadotropin-releasing Hormone Agonist Treatment for Central Precocious Puberty: Evolution or Coincidence?
- Novel Growth Hormone Receptor Gene Mutation in a Patient with Laron Syndrome
- A Novel Missense Mutation in the AVPR2 Gene of a Japanese Infant with Nephrogenic Diabetes Insipidus
- Early Presentation of Familial Paraganglioma with SDHB Mutation in a 13 year old Child and its Mother
