Our Experience in Molecular Genetic Studies of Iranian Patients with Endocrine Disorders

During last 2 decades, molecular genetic studies have revolutionized diagnosis, management and surveillance strategies in groups of patients in the field of endocrinology, especially those afflicted with tumors of neuroendocrine origin. We present here our experience in genetic studies of our patients with a wide range of endocrine disorders. Family 1: Hereditary vitamin D resistant rickets (HVDRR) Gene sequencing revealed a missense G to A mutation in exon 4 (G > A) that led to the methionine substitution for the naturally occurring valine at position 26 in DNA binding domain (DBD) of the vitamin D receptor.Family 2: Thyroid hormone resistance syndrome. Gene sequencing revealed a Glycine to Aspartic acid mutation in Codon 345 of DNA binding domain (DBD) of thyroid hormone receptor ℬ gene.Family 3: Multiple endocrine neoplasia type 2A (MEN 2A) Gene sequencing revealed a cysteine-arginine mutation in codon 634 and 3 polymorphisms; Gly691Ser, Ser 836 Ser and Ser904 Ser Family 4: Multiple endocrine neoplasia type 1 (MEN 1) Gene sequencing revealed a novel frameshift mutation c.1642_1648dup in exon 10 of the Menin gene. (novel mutation)Family 5: Paraganglioma Gene sequencing revealed a heterozygous 3-nucleotide deletion, c.596-598 delACT (p.Tyr199del) in exon 6. (novel mutation)Family 6: Carney Complex Gene sequencing revealed a mutation (c.642dupT) in PRKAR1A gene (novel mutation)Family 7: Von Hipple Lindau Gene sequencing revealed a heterozygote G to A mutation (CGG to CAG) in codon 167 of exon 3 which resulted in arginine to glutamine substitution Conclusion:Genetic studies in patients with familial disorders in the branch of endocrinology and metabolism are of utmost significance in tailoring prophylactic and therapeutic measurements to any case to offer the best plan for medical or surgical interventions.