Clinical characteristics in patients with interstitial deletions of chromosome region 12q21–q22 and identification of a critical region associated with keratosis pilaris. Issue 3 (20th December 2013)

• Record Type: Journal Article
• Authors: Al‐Maawali, Almundher; Marshall, Christian R.; Scherer, Stephen W.; Dupuis, Lucie; Mendoza‐Londono, Roberto; Stavropoulos, Dimitri J.
• Is Part Of: American journal of medical genetics. Volume 164:Issue 3(2014.)
• Page Start: 796
• Page End: 800
• Publication Date: 2013-12-20
• Subjects: Medical genetics -- Periodicals; 616.14205
• DOI: 10.1002/ajmg.a.36356
• Languages: English
• ISSNs: 1552-4825

Abstract

<abstract abstract-type="main"> <title> <x xml:space="preserve">Abstract</x> </title> <sec id="ajmga36356-sec-0001" sec-type="section"> <p>We report on a male patient with a submicroscopic 1.21 Mb <italic>de novo</italic> deletion at 12q21.33–q22 with global developmental delay, characteristic facial features, and keratosis pilaris. Thus far, five other cases with a 12q <italic>de novo</italic> deletion including this segment have been reported; our case represents the smallest <italic>de novo</italic> deletion within this chromosome region. High resolution SNP microarray analysis showed a deletion of RefSeq genes <italic>BTG1</italic> and <italic>LOC256021</italic>, and partial deletion of <italic>DCN</italic>. We propose that <italic>BTG1</italic> is a critical gene for the development of the distinctive keratosis pilaris observed in patients with interstitial deletion of 12q21–q22, and suggest candidate genes that may contribute to dysmorphic features and global developmental delay. © 2013 Wiley Periodicals, Inc.</p> </sec> </abstract>