ESPE2015 Poster Category 3 Bone (47 abstracts)
VDR Gene Analysis Results of Four Patients with Hereditary 1,25-Dihydroxyvitamin D Resistant Rickets
Esra Deniz Papatya Çakir a , Özgür Aldemir b , SeyitAhmet Ucaktürk c , Erdal Eren d & Samim Ozen e
aDepartment of Pediatric Endocrinology, Bakirköy Dr. Sadi Konuk Education and Research Hospital, Istanbul, Turkey; bDepartment of Genetics, Mustafa Kemal University, Hatay, Turkey; cDepartment of Pediatric Endocrinology, Dıskapı Chidren’s Health and Hematology/Oncology Education and Research Hospital, Ankara, Turkey; dDepartment of Pediatric Endocrinology, Uludag University Faculty of Medicine, Bursa, Turkey; eDepartment of Pediatric Endocrinology, Ege University School of Medicine, İzmir, Turkey
Background: Hereditary 1,25-dihydroxyvitamin D resistant rickets (HVDRR) caused by vitamin D defective receptor.
Objective and hypotheses: We performed VDR gene analysis four patients with alopecia, skeletal dysplasia, and hypocalcaemia.
Method: Genomic DNA extracted from peripheric blood. Whole gene sequence analysis was performed.
Results: We found homozigot p.Q152* (c.454G>T) mutation three patients. Two of this three patients were siblings. There is homozygous p.R50* (c.148C>T) mutation in one patient.
Conclusion: HVDRR is a rare autosomal recessive disease caused by the mutations in VDR gene. Here we report clinical and laboratory findings of four patients.
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