✦ LIBER ✦

Submicroscopic deletion of 12q13 including HOXC gene cluster with skeletal anomalies and global developmental delay

✍ Scribed by Nobuhiko Okamoto; Daisuke Tamura; Gen Nishimura; Keiko Shimojima; Toshiyuki Yamamoto

Publisher: John Wiley and Sons
Year: 2011
Tongue: English
Weight: 204 KB
Volume: 155
Category: Article
ISSN: 1552-4825
DOI: 10.1002/ajmg.a.34324

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✦ Synopsis

Abstract

We report on a patient with a submicroscopic deletion of 12q13 detected by array‐CGH and confirmed by FISH. He was haploinsufficient for the HOXC gene cluster and some other neighboring genes. HOX genes have an important role in the initial formation of the body. The patient showed characteristic features including severe kyphoscoliosis, digital abnormalities, cardiac anomaly, expressive language, and global developmental delay. Radiologic features of the fingers had some similarities with those for multiple synostosis syndrome. No human genetic disorders due to HOXC abnormalities are yet known. We tentatively assume that his skeletal anomalies are associated with haploinsufficiency of the HOXC gene cluster. Further studies are necessary to determine the clinical importance of haploinsufficiency of the HOXC gene cluster. © 2011 Wiley Periodicals, Inc.

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