Nature Communications (Nov 2017)
Two missense mutations in KCNQ1 cause pituitary hormone deficiency and maternally inherited gingival fibromatosis
- Johanna Tommiska,
- Johanna Känsäkoski,
- Lasse Skibsbye,
- Kirsi Vaaralahti,
- Xiaonan Liu,
- Emily J. Lodge,
- Chuyi Tang,
- Lei Yuan,
- Rainer Fagerholm,
- Jørgen K. Kanters,
- Päivi Lahermo,
- Mari Kaunisto,
- Riikka Keski-Filppula,
- Sanna Vuoristo,
- Kristiina Pulli,
- Tapani Ebeling,
- Leena Valanne,
- Eeva-Marja Sankila,
- Sirpa Kivirikko,
- Mitja Lääperi,
- Filippo Casoni,
- Paolo Giacobini,
- Franziska Phan-Hug,
- Tal Buki,
- Manuel Tena-Sempere,
- Nelly Pitteloud,
- Riitta Veijola,
- Marita Lipsanen-Nyman,
- Kari Kaunisto,
- Patrice Mollard,
- Cynthia L. Andoniadou,
- Joel A. Hirsch,
- Markku Varjosalo,
- Thomas Jespersen,
- Taneli Raivio
Affiliations
- Johanna Tommiska
- Faculty of Medicine, Department of Physiology, University of Helsinki
- Johanna Känsäkoski
- Faculty of Medicine, Department of Physiology, University of Helsinki
- Lasse Skibsbye
- Department of Biomedical Sciences, University of Copenhagen
- Kirsi Vaaralahti
- Faculty of Medicine, Department of Physiology, University of Helsinki
- Xiaonan Liu
- Institute of Biotechnology, Biocenter 3, University of Helsinki
- Emily J. Lodge
- Centre for Craniofacial and Regenerative Biology, King’s College London
- Chuyi Tang
- Department of Biomedical Sciences, University of Copenhagen
- Lei Yuan
- Department of Biomedical Sciences, University of Copenhagen
- Rainer Fagerholm
- Faculty of Medicine, Department of Physiology, University of Helsinki
- Jørgen K. Kanters
- Laboratory of Experimental Cardiology, Department of Biomedical Sciences, University of Copenhagen
- Päivi Lahermo
- Institute for Molecular Medicine Finland (FIMM), Helsinki Institute of Life Science HiLIFE, University of Helsinki
- Mari Kaunisto
- Institute for Molecular Medicine Finland (FIMM), Helsinki Institute of Life Science HiLIFE, University of Helsinki
- Riikka Keski-Filppula
- Department of Clinical Genetics, Oulu University Hospital
- Sanna Vuoristo
- Faculty of Medicine, Department of Physiology, University of Helsinki
- Kristiina Pulli
- Faculty of Medicine, Department of Physiology, University of Helsinki
- Tapani Ebeling
- Department of Medicine, Oulu University Hospital, Finland and Research Unit of Internal Medicine, University of Oulu
- Leena Valanne
- Helsinki Medical Imaging Center, HUCH
- Eeva-Marja Sankila
- Department of Ophthalmology, HUCH
- Sirpa Kivirikko
- Department of Clinical Genetics, HUCH
- Mitja Lääperi
- Faculty of Medicine, Department of Physiology, University of Helsinki
- Filippo Casoni
- Inserm U1172, Jean-Pierre Aubert Research Center, Development and Plasticity of the Neuroendocrine Brain
- Paolo Giacobini
- Inserm U1172, Jean-Pierre Aubert Research Center, Development and Plasticity of the Neuroendocrine Brain
- Franziska Phan-Hug
- Pediatrics, Division of Pediatric Endocrinology, Diabetology and Obesity, University Hospital Lausanne (CHUV)
- Tal Buki
- Department of Biochemistry and Molecular Biology, George S. Wise Faculty of Life Sciences, Institute of Structural Biology
- Manuel Tena-Sempere
- Department of Cell Biology, Physiology and Immunology, University of Córdoba
- Nelly Pitteloud
- Pediatrics, Division of Pediatric Endocrinology, Diabetology and Obesity, University Hospital Lausanne (CHUV)
- Riitta Veijola
- Department of Children and Adolescents, Oulu University Hospital
- Marita Lipsanen-Nyman
- Children’s Hospital, Pediatric Research Center, Helsinki University Central Hospital (HUCH)
- Kari Kaunisto
- Department of Children and Adolescents, Oulu University Hospital
- Patrice Mollard
- IGF, CNRS, INSERM, Univ. Montpellier
- Cynthia L. Andoniadou
- Centre for Craniofacial and Regenerative Biology, King’s College London
- Joel A. Hirsch
- Department of Biochemistry and Molecular Biology, George S. Wise Faculty of Life Sciences, Institute of Structural Biology
- Markku Varjosalo
- Institute of Biotechnology, Biocenter 3, University of Helsinki
- Thomas Jespersen
- Department of Biomedical Sciences, University of Copenhagen
- Taneli Raivio
- Faculty of Medicine, Department of Physiology, University of Helsinki
- DOI
- https://doi.org/10.1038/s41467-017-01429-z
- Journal volume & issue
-
Vol. 8,
no. 1
pp. 1 – 11
Abstract
Growth retardation is most commonly caused by genetic defects in the growth hormone pathway. Here, in families with growth retardation and gingival fibromatosis, the authors identify mutations in the potassium channel gene KCNQ1 that cause electrophysiological aberrations and altered ACTH secretion in vitro.
