@article{86574f69b6454080883667f39d05f0f4,
title = "The 12q14 microdeletion syndrome: Additional patients and further evidence that HMGA2 is an important genetic determinant for human height",
abstract = "Characteristic features of the 12q14 microdeletion syndrome include low birth weight, failure to thrive, short stature, learning disabilities and Buschke-Ollendorff lesions in bone and skin. This report on two additional patients with this microdeletion syndrome emphasizes the rather constant and uniform phenotype encountered in this disorder and refines the critical region to a 2.61 Mb interval on 12q14.3, encompassing 10 RefSeq genes. We have previously shown that LEMD3 haploinsufficiency is responsible for the Buschke-Ollendorff lesions and now provide strong evidence that a heterozygous deletion of HMGA2 is causing the growth failure observed in this disorder. The identification of an intragenic HMGA2 deletion in a boy with proportionate short stature and the cosegregation of this deletion with reduced adult height in the extended family of the boy further underscore the role of HMGA2 in regulating human linear growth.",
keywords = "12q14 Microdeletion syndrome, Buschke-Ollendorff, HMGA2, LEMD3, Mental retardation, Osteopoikilosis, Short stature",
author = "Karen Buysse and William Reardon and Lakshmi Mehta and Teresa Costa and Carrie Fagerstrom and Kingsbury, {Daniel J.} and George Anadiotis and McGillivray, {Barbara C.} and Jan Hellemans and {de Leeuw}, Nicole and {de Vries}, {Bert B.A.} and Frank Speleman and Bj{\"o}rn Menten and Geert Mortier",
note = "Funding Information: We are grateful to the patients and their families for their cooperation. We would like to thank Lies Vantomme for expert technical assistance and Bram De Wilde for his help in investigating the family of patient #D0811079. This work was made possible by grants G.0200.03 and 3G027907 from the FWO and GOA-grant 12051203 from Ghent University. Karen Buysse is supported by a PhD fellowship of the Research Foundation – Flanders (FWO), Jan Hellemans is funded by the Institute for the Promotion of Innovation by Science and Technology in Flanders and Geert Mortier is senior clinical investigator at the Research Foundation – Flanders (FWO). This study is also supported by the Netherlands Organisation for Health Research and Development (ZON-MW) (BBAdV), and by the AnEUploidy project (LSHG-CT-2006-037627) supported by the European Commission under FP6 (BBAdV and NdL). This paper also presents research results of the Belgian program of Interuniversity Poles of Attraction initiated by the Belgian State, Prime Minister's Office, Science Policy Programming (IUAP).",
year = "2009",
month = mar,
doi = "10.1016/j.ejmg.2009.03.001",
language = "English",
volume = "52",
pages = "101--107",
journal = "European Journal of Medical Genetics",
issn = "1769-7212",
publisher = "Elsevier Masson s.r.l.",
number = "2-3",
}