Website of the International Collaborative Growth Genetics Consortium

MARIE J.E. WALENKAMP; VIVIAN HWA; MARTIN O. SAVAGE; ALEXANDER JORGE; HORACIO M. DOMENÉ; HÉCTOR G. JASPER; ROLAND PFAFFLE; WIELAND KIESS; YVES LE BOUC; IRENE NETCHINE; JOEY WARREN; SARAH J DE VRIES; JAN MAARTEN WIT; RON G. ROSENFELD

Glasgow

Congreso; 50th Annual Meeting of the European Society for Paediatric Endocrinology; 2011

European Society for Paediatric Endocrinology (ESPE)

Website of the International Collaborative Growth Genetics Consortium Marie J.E. Walenkamp1; Vivian Hwa2; Martin O Savage3; Alexander Jorge4; Horacio Domene5; Jasper Hector5; Roland Pfäffle6; Wieland Kiess6; Yves Le Bouc7; Irene Netchine7; Joey Warren8; Sarah J De Vries9; Jan Maarten Wit10; Ron Rosenfeld2 1VU University Medical Center, Pediatrics, Amsterdam, Netherlands; 2Oregon Health and Science University, Pediatrics, Portland, United States; 3Barts and London School of Medicine & Dentistry, Endocrinology, London, United Kingdom; 4University of Sao Paulo,Endocrinology, Sao Paulo, Brazil; 5Hospital de Niños Ricardo Gutierrez, Centro de Investigaciones Endocrinológicas, Buenos Aires, Argentina; 6University of Leipzig, Pediatric Endocrinology and Diabetes, Leipzig, Germany; 7UMRS.938, Inserm/UPMC, Pediatrics Investigations, Hosp Trousseau, Paris, France; 8Barkani, Inc, Project Management, New York, United States; 9Veraxis Health Communications, Inc, Project Management, Pine Brook, United States; 10Leiden University Medical Center, Pediatrics, Leiden, Netherlands Background: Disruption of the GH-IGF-I axis can lead to clinical conditions of IGF deficiency (IGFD) or IGF resistance. Mutations in the GH receptor (GHR) gene and STAT5B genes result in severe postnatal growth failure; IGF1 gene defects result in severe pre-and postnatal growth failure; mutations in the IGFALS gene appear to affect only circulating IGF-I levels, but only modest growth failure; IGFIR gene mutations induce resistance to IGF-I, leading to intrauterine and postnatal growth retardation. Abnormalities of IGF-II expression (IGF2 gene) have been confined to epigenetic changes. Objective: Access to phenotypic, biochemical and molecular data concerning all documented cases, in one central location, would be invaluable to clinicians and researchers interested in the GH-IGF axis. An international collaborative Growth Genetics Consortium was formed to collate relevant documented information. The goals of this Consortium are as follows: • Create and curate a publicly available database and website for all documented molecular defects of the GH-IGF axis • Help guide the clinician in the identification, evaluation and management of patients with molecular defects of the GH-IGF axis • Describe phenotypic, biochemical and genotypic characteristics of all known patients with IGF deficiency or IGF resistance • Educate the medical profession and lay public about the causes of IGF deficiency and resistance Methods: A website has been established to facilitate access to collated information: http://www.growthgeneticsconsortium.org. Six genes are now included on this website, with 2 curators assigned for each gene. Submission of new cases through the website are encouraged. Results: In the first semester of 2011 we aim at including all published andunpublished patients with GHR, STAT5b, IGFALS, IGF1R defects. Conclusions: The website of the growth genetics consortium provides a public database for cases with a molecular defect in the GH-IGF-I axis. Acknowledgement: We are grateful to Veraxis Health Communication, Inc for supporting the website.