ESPE Abstracts (2014) 82 P-D-1-1-235

A Nonsense Thyrotropin Receptor Gene Mutation (R609X) is Associated with Congenital Hypothyroidism and Heart Defects

Hakan Cangüla, Veysel Nijat Basb, Yaman Sağlamd, Michaela Kendalle, Timothy G Barrettf, Eamonn R Maherg & Zehra Aycanb,c


aDepartment of Medical Genetics, Bahcesehir University School of Medicine, Istanbul, Turkey; bClinics of Pediatric Endocrinology, Dr. Sami Ulus Research and Training Hospital of Women’s and Children’s Health and Diseases, Ankara, Turkey; cYildirim Beyazit University Medical School, Ankara, Turkey; dCentre for Genetic Diagnosis, Medical Park Goztepe Hospital, Istanbul, Turkey; eDivision of Clinical and Experimental Sciences, Department of Child Health, Faculty of, Southampton, UK; fSchool of Clinical and Experimental Medicine, Centre for Rare Diseases and Personalised Medicine, University of Birmingham, Birmingham, UK; gAcademic Department of Medical Genetics, University of Cambridge Clinical School, Cambridge, UK


Background: Congenital hypothyroidism, one of the most important preventable causes of mental retardation, is a clinical condition characterized by thyroid hormone deficiency in newborns.

Objective and hypotheses: Congenital hypothyroidism is most often caused by defects in thyroid development leading to thyroid dysgenesis. TSH receptor (TSHR) is the main known gene causing thyroid dysgenesis in consanguineous families with congenital hypothyroidism. In this study, we aimed to determine the genetic alteration in a case with congenital hypothyroidism and heart defects coming from a consanguineous family.

Method: We utilised genetic linkage analysis and direct sequencing to achieve our aim.

Results: Our results revealed that the family showed linkage to the TSHR locus, and we detected a homozygous nonsense mutation (R609X) in the case.

Conclusion: Apart from other cases with the same mutation, our case had accompanying cardiac malformations. Although cardiac malformations are not uncommon in sporadic congenital hypothyroidism, here they are reported for the first time with R609X mutation in a familial case.

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