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A familial 7q36.3 duplication associated with agenesis of the corpus callosum
Author(s) -
Wong Keith,
Moldrich Randal,
Hunter Matthew,
Edwards Matthew,
Finlay David,
O'Donnell Sheridan,
MacDougall Tom,
Bain Nicole,
Kamien Benjamin
Publication year - 2015
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.37143
Subject(s) - gene duplication , corpus callosum , biology , agenesis of the corpus callosum , macrocephaly , genetics , agenesis , sonic hedgehog , anatomy , gene
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 ( RBM33 ) and Sonic Hedgehog ( SHH ). 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 SHH 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.