The 12q14 microdeletion syndrome: Additional patients and further evidence that HMGA2

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• 作者：Karen Buysse ; William Reardon ; Lakshmi Mehta ; Teresa Costa ; Carrie Fagerstrom ; Daniel J. Kingsbury ; George Anadiotis ; Barbara C. McGillivray ; Jan Hellemans ; Nicole de Leeuw ; Bert B.A. de Vries ; Frank Speleman ; Bjö ; rn Menten ; Geert Mortier
• 关键词：12q14 Microdeletion syndrome ; Osteopoikilosis ; Buschke– ; Ollendorff ; Short stature ; Mental retardation ; LEMD3 ; HMGA2
• 刊名：European Journal of Medical Genetics
• 出版年：2009
• 出版时间：March-June 2009
• 年：2009
• 卷：52
• 期：2-3
• 页码：101-107
• 全文大小：384 K

文摘

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.