The First Turkish Case of Hypoparathyroidism, Deafness and Renal Dysplasia (HDR) Syndrome

Journal of Clinical Research in Pediatric Endocrinology
Hakan DönerayAyşe Sena Dönmez

Abstract

Hypoparathyroidism, deafness and renal dysplasia (HDR) syndrome is an autosomal dominant genetic disorder characterized by hypoparathyroidism, sensorineural deafness and renal dysplasia. We herein present the first Turkish patient with HDR syndrome, who has a p.R367X mutation. This report indicates that p.R367X is not a mutation specific for the Far Eastern populations and also that urological findings in infants with hypoparathyroidism should be carefully examined because clinical findings relating to the p.R367X mutation may show a variable age of onset.

Citations

Apr 18, 2018·American Journal of Medical Genetics. Part a·Amin J BarakatOwen M Rennert
Dec 12, 2018·Genetics and Molecular Biology·Fábio Tadeu Arrojo MartinsEdi Lúcia Sartorato

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