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

被引：44

作者：

Buysse, Karen ^{[1
]}

Reardon, William ^{[2
]}

Mehta, Lakshmi ^{[3
]}

Costa, Teresa ^{[4
]}

Fagerstrom, Carrie ^{[5
]}

Kingsbury, Daniel J. ^{[5
]}

Anadiotis, George ^{[5
]}

McGillivray, Barbara C. ^{[6
]}

Hellemans, Jan ^{[1
]}

de Leeuw, Nicole ^{[7
]}

de Vries, Bert B. A. ^{[7
]}

Speleman, Frank ^{[1
]}

Menten, Bjorn ^{[1
]}

Mortier, Geert ^{[1
]}

机构：

[1] Ghent Univ Hosp, Ctr Med Genet, B-9000 Ghent, Belgium

[2] Our Ladys Hosp Sick Children, Dublin, Ireland

[3] Schneider Childrens Hosp, Manhasset, NY USA

[4] McGill Univ, Ctr Hlth, Montreal, PQ, Canada

[5] Legacy Emanuel Childrens Hosp, Portland, OR USA

[6] Univ British Columbia, Dept Med Genet, Vancouver, BC, Canada

[7] Radboud Univ Nijmegen, Med Ctr, Ctr Med Genet, NL-6525 ED Nijmegen, Netherlands

来源：

EUROPEAN JOURNAL OF MEDICAL GENETICS | 2009年 / 52卷 / 2-3期

基金：

比利时弗兰德研究基金会;

关键词：

12q14 Microdeletion syndrome; Osteopoikilosis; Buschke-Ollendorff; Short stature; Mental retardation; LEMD3; HMGA2; BUSCHKE-OLLENDORFF-SYNDROME; OF-FUNCTION MUTATIONS; MENTAL-RETARDATION; OSTEOPOIKILOSIS; EXPRESSION; MELORHEOSTOSIS; PHENOTYPE; PROTEINS; STATURE; ADULT;

D O I：

10.1016/j.ejmg.2009.03.001

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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. (C) 2009 Elsevier Masson SAS. All rights reserved.

引用

页码：101 / 107

页数：7

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