A familial 7q36.3 duplication associated with agenesis of the corpus callosum. (5th May 2015)

• Record Type: Journal Article
• Authors: Wong, Keith; Moldrich, Randal; Hunter, Matthew; Edwards, Matthew; Finlay, David; O'Donnell, Sheridan; MacDougall, Tom; Bain, Nicole; Kamien, Benjamin
• Is Part Of: American journal of medical genetics. Volume 167:Number 9(2015:Sep.)
• Page Start: 2201
• Page End: 2208
• Publication Date: 2015-05-05
• Subjects: Medical genetics -- Periodicals; 616.14205
• DOI: 10.1002/ajmg.a.37143
• Languages: English
• ISSNs: 1552-4825

Abstract

<abstract abstract-type="main" xml:lang="en"> <title> <x xml:space="preserve">Abstract</x> </title> <sec id="ajmga37143-sec-0001" sec-type="section"> <p>Small chromosomal duplications involving 7q36.3 have rarely been reported. This clinical report describes four individuals from a three‐generation family with agenesis of the corpus callosum (ACC) and a 0.73 Mb duplication of 7q36.3 detected by array CGH. The 7q36.3 duplication involves two genes: RNA Binding Motif Protein 33 (<italic>RBM33</italic>) and Sonic Hedgehog (<italic>SHH</italic>). Most affected family members had mild intellectual disability or borderline intellectual functioning, macrocephaly, a broad forehead, and widely spaced eyes. Two individuals had a Chiari type I malformation. This is the first family reported with ACC associated with a small duplication of these genes. While we cannot establish causation for the relationship between any single gene and the ACC in this family, there is a role for <italic>SHH</italic> in the formation of the corpus callosum through correct patterning and assembly of the commissural plate, and these data concur with vertebrate studies showing that a gain of SHH expands the facial primordium. © 2015 Wiley Periodicals, Inc.</p> </sec> </abstract>