The 12q14 microdeletion syndrome : additional patients and further evidence that **HMGA2** is an important genetic determinant for human height

Buysse, Karen; Reardon, William; Mahta, Lakshmi; Mortier, Geert; et al.

doi:10.1016/J.EJMG.2009.03.001

Title

The 12q14 microdeletion syndrome : additional patients and further evidence that **HMGA2** is an important genetic determinant for human height

Author

Buysse, Karen

Reardon, William

Mahta, Lakshmi

Mortier, Geert

et al.

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

DOI

10.1016/J.EJMG.2009.03.001

Volume/pages

52 :2/3 (2009) , p. 101-107