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Tiziana de Filippis Laboratory of Endocrine and Metabolic Research, Milan, Italy
Division of Endocrinology and Metabolic Diseases, IRCCS Istituto Auxologico Italiano, Milan, Italy

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Federica Marelli Laboratory of Endocrine and Metabolic Research, Milan, Italy
Division of Endocrinology and Metabolic Diseases, IRCCS Istituto Auxologico Italiano, Milan, Italy

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Maria Cristina Vigone Department of Pediatrics, Vita-Salute University, San Raffaele Scientific Institute, Milan, Italy

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Marianna Di Frenna Department of Pediatrics, Vita-Salute University, San Raffaele Scientific Institute, Milan, Italy

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Giovanna Weber Department of Pediatrics, Vita-Salute University, San Raffaele Scientific Institute, Milan, Italy

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Luca Persani Laboratory of Endocrine and Metabolic Research, Milan, Italy
Division of Endocrinology and Metabolic Diseases, IRCCS Istituto Auxologico Italiano, Milan, Italy
Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy

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Introduction In humans, heterozygous loss-of-function mutations in NKX2-1 gene (OMIM #600635) have been reported to cause a complex phenotype called brain-lung-thyroid (BLT) syndrome (OMIM #610978) [ 1 , 2 , 3 , 4 , 5 , 6 , 7 ]. The BLT

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Giorgio Radetti Marienklinik, Bolzano, Italy

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Franco Rigon Department of Paediatrics, University of Padua, Padua, Italy

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Alessandro Salvatoni Department of Medicine and Surgery, University of Insubria, Varese, Italy

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Irene Campi Division of Endocrine and Metabolic Diseases and Laboratory of Endocrine and Metabolic Research, Istituto Auxologico Italiano, IRCCS, Milan, Italy

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Tiziana De Filippis Division of Endocrine and Metabolic Diseases and Laboratory of Endocrine and Metabolic Research, Istituto Auxologico Italiano, IRCCS, Milan, Italy

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Valentina Cirello Division of Endocrine and Metabolic Diseases and Laboratory of Endocrine and Metabolic Research, Istituto Auxologico Italiano, IRCCS, Milan, Italy

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Silvia Longhi Department of Paediatrics, Regional Hospital of Bolzano, Bolzano, Italy

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Fabiana Guizzardi Division of Endocrine and Metabolic Diseases and Laboratory of Endocrine and Metabolic Research, Istituto Auxologico Italiano, IRCCS, Milan, Italy

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Marco Bonomi Division of Endocrine and Metabolic Diseases and Laboratory of Endocrine and Metabolic Research, Istituto Auxologico Italiano, IRCCS, Milan, Italy
Department of Medical Biotechnology and Translational Medicine, University of Milan, Milan, Italy

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Luca Persani Division of Endocrine and Metabolic Diseases and Laboratory of Endocrine and Metabolic Research, Istituto Auxologico Italiano, IRCCS, Milan, Italy
Department of Medical Biotechnology and Translational Medicine, University of Milan, Milan, Italy

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technique. The gene panel was designed using Illumina Design Studio and included 20 candidate genes involved in TH actions and CH: THRA, THRB, DIO1, DIO2, SLC16A2, SECISBP2, DUOX2, DUOXA2, FOXE1, GLIS3, IYD, JAG1, NKX2-1, NKX2-5, PAX8, SLC26A4, SLC5A5, TG

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Mikael Nilsson University of Gothenburg, Göteborg, Sweden

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E. Dillwyn Williams University of Cambridge, Cambridge, UK

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part be mediated through interaction with Nkx2-1 [ 9 ], a thyroid transcription factor. This group of genes merits further study in both C and follicular cell-derived thyroid cancers. We conclude by hoping that our paper may stimulate further

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Mikael Nilsson Sahlgrenska Cancer Center, Institute of Biomedicine, University of Gothenburg, Gothenburg, Sweden

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Dillwyn Williams Department of Public Health, University of Cambridge, Cambridge, UK

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thought to originate from the parathyroid due to technical difficulties in separating the two in tissue preparations [ 16 ]. Of interest, calcitonin expression in C cells is regulated by Nkx2-1 (identical to thyroid transcription factor-1 or TTF-1) [ 17

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Robert Opitz Institute of Interdisciplinary Research in Molecular Human Biology, Université Libre de Bruxelles, Brussels, Belgium

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Francesco Antonica Institute of Interdisciplinary Research in Molecular Human Biology, Université Libre de Bruxelles, Brussels, Belgium

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Sabine Costagliola Institute of Interdisciplinary Research in Molecular Human Biology, Université Libre de Bruxelles, Brussels, Belgium

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from examination of mouse embryos [ 3 , 7 ]. It was particularly the generation and phenotypic analysis of murine knock-out models for key factors controlling thyroid development (e.g. NKX2.1, PAX8, FOXE1, HEX) that laid the foundation for current

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Anita Boelen Endocrine Laboratory, Department of Laboratory Medicine, Amsterdam UMC, location University of Amsterdam, Amsterdam, The Netherlands
Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, The Netherlands
Amsterdam Reproduction & Development Research Institute, Amsterdam, The Netherlands

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Nitash Zwaveling-Soonawala Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, The Netherlands
Department of Pediatric Endocrinology, Emma Children’s Hospital, Amsterdam UMC, location University of Amsterdam, Amsterdam, The Netherlands

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Annemieke C Heijboer Endocrine Laboratory, Department of Laboratory Medicine, Amsterdam UMC, location University of Amsterdam, Amsterdam, The Netherlands
Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, The Netherlands
Amsterdam Reproduction & Development Research Institute, Amsterdam, The Netherlands
Endocrine Laboratory, Department of Laboratory Medicine, Amsterdam UMC, location Vrije Universiteit Amsterdam, Amsterdam, The Netherlands

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A S Paul van Trotsenburg Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, The Netherlands
Department of Pediatric Endocrinology, Emma Children’s Hospital, Amsterdam UMC, location University of Amsterdam, Amsterdam, The Netherlands

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development (thyroid hypoplasia) of the thyroid gland. Several genes are involved in the development of the thyroid gland, and mutations in a variety of genes have been described to be associated with dysgenesis ( PAX8 , NKX2-1 , FOXE1 , NKX2-5,HHEX and

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Cengiz Kara Department of Molecular Medicine, Institute of Graduate Studies, Ondokuz Mayis University, Samsun, Turkey
Department of Pediatric Endocrinology, Faculty of Medicine, Istinye University, Istanbul, Turkey

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Jamala Mammadova Pediatric Endocrinology Unit, Altinbas University Medicalpark Bahçelievler Hospital, Istanbul, Turkey

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Ümmet Abur Department of Molecular Medicine, Institute of Graduate Studies, Ondokuz Mayis University, Samsun, Turkey
Department of Medical Genetics, Faculty of Medicine, Ondokuz Mayis University, Samsun, Turkey

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Cagri Gumuskaptan Department of Molecular Medicine, Institute of Graduate Studies, Ondokuz Mayis University, Samsun, Turkey
Department of Medical Genetics, Faculty of Medicine, Ondokuz Mayis University, Samsun, Turkey

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Elif İzci Güllü Department of Pediatric Endocrinology, Faculty of Medicine, Ondokuz Mayis University, Samsun, Turkey

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Ayhan Dağdemir Department of Molecular Medicine, Institute of Graduate Studies, Ondokuz Mayis University, Samsun, Turkey

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Murat Aydın Department of Pediatric Endocrinology, Faculty of Medicine, Ondokuz Mayis University, Samsun, Turkey

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, ectopy, orthotopic hypoplasia and hemiagenesis. TD can result from mutations that are inherited in an autosomal dominant ( PAX8, NKX2-1, NKX2-2, JAG1, NTN1 ), recessive ( FOXE1, GLIS3 ) or both ( CDCA8, TSHR ) manner ( 4 ). Resistance to thyrotropin (TSH

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L.C. Cardoso-Weide Departamento de Patologia, Faculdade de Medicina, Universidade Federal Fluminense (UFF), Niterói, Brazil

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R.C. Cardoso-Penha Laboratório de Fisiologia Endócrina Doris Rosenthal, IBCCF, Brazil

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M.W. Costa Australian Regenerative Medicine Institute, Monash University, Melbourne, Vic., Australia

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A.C.F. Ferreira NUMPEX, Polo de Xerém, Universidade Federal do Rio de Janeiro (UFRJ), Rio de Janeiro, Brazil

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D.P. Carvalho Laboratório de Fisiologia Endócrina Doris Rosenthal, IBCCF, Brazil

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P.S. Santisteban Instituto de Investigaciones Biomédicas Alberto Sols, Spanish Council of Research-Universidad Autónoma de Madrid, Madrid, Spain

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transcription factor 1/Nkx2-1) and PAX8 (paired box gene 8) on DuOx2 promoter activity regulation, as they are simultaneously expressed only in the thyroid gland and are required for proper thyroid development [ 14 , 15 , 16 , 17 ]. We also investigated the role

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