Publication
Title
The 12q14 microdeletion syndrome : additional patients and further evidence that **HMGA2** is an important genetic determinant for human height
Author
Abstract
Characteristic features of the 12q14 microdeletion syndrome include low birth weight, failure to thrive, short stature, learning disabilities and BuschkeOllendorff 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 BuschkeOllendorff 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.
Language
English
Source (journal)
European journal of medical genetics. - Paris
Publication
Paris : 2009
ISSN
1769-7212
Volume/pages
52:2/3(2009), p. 101-107
ISI
000266903500005
Full text (Publisher's DOI)
Full text (publisher's version - intranet only)
UAntwerpen
Faculty/Department
Publication type
Subject
External links
Web of Science
Record
Identification
Creation 01.06.2012
Last edited 30.05.2017