Department of Pathology and Laboratory Medicine, Nationwide Children's Hospital, Columbus, Ohio 43205, USA.
Am J Med Genet A. 2012 Nov;158A(11):2925-30. doi: 10.1002/ajmg.a.35610. Epub 2012 Sep 14.
The 12q14 microdeletion syndrome is a rare condition that has previously been characterized by pre- and postnatal growth restriction, proportionate short stature, failure to thrive, developmental delay, and osteopoikilosis. Previously reported microdeletions within this region have ranged in size from 1.83 to 10.12 Mb with a proposed 2.61 Mb smallest region of overlap containing the LEMD3, HMGA2, and GRIP1 genes. Here, we report on the identification of a 12q14 microdeletion in a female child presenting with proportionate short stature, failure to thrive, and speech delay. The genomic loss (minimum size 4.17 Mb, maximum size 4.21 Mb) contained 25 RefSeq genes including IRAK3, GRIP1, and the 3' portion of the HMGA2 gene. This is the first partial deletion of HMGA2 associated with the 12q14 microdeletion syndrome. This case further clarifies the association of LEMD3 deletions with the 12q14 microdeletion syndrome and provides additional support for the role of the HMGA2 gene in human growth.
12q14 微缺失综合征是一种罕见的疾病，以前的特征是产前和产后生长受限、成比例的身材矮小、生长不良、发育迟缓以及骨斑点症。该区域内以前报道的微缺失大小从 1.83Mb 到 10.12Mb 不等，提出的 2.61Mb 最小重叠区域包含 LEMD3、HMGA2 和 GRIP1 基因。在这里，我们报告了一名女性儿童的 12q14 微缺失的鉴定，该儿童表现为成比例的身材矮小、生长不良和语言发育迟缓。基因组缺失（最小大小 4.17Mb，最大大小 4.21Mb）包含 25 个 RefSeq 基因，包括 IRAK3、GRIP1 和 HMGA2 基因的 3'部分。这是第一个与 12q14 微缺失综合征相关的 HMGA2 部分缺失。该病例进一步阐明了 LEMD3 缺失与 12q14 微缺失综合征的关联，并为 HMGA2 基因在人类生长中的作用提供了更多支持。
