A Novel and Common Insertion/Deletion Polymorphism in the GJA5 Gene Encoding Connexin-40 Is Associated with Connexin-40 Expression in Human Atrial Tissue
CIRCULATION
Authors: Wirka, Robert C.; Van Wagoner, David R.; Chung, Mina K.; Barnard, John; Smith, Jonathan D.
Abstract
Phenotypic Variability Associated with a Large Recurrent 1q21.1 Microduplication in a Three-Generation Family
MOLECULAR SYNDROMOLOGY
Authors: Verhagen, Judith M. A.; de Leeuw, Nicole; Papatsonis, Dimitri N. M.; Grijseels, Els W. M.; de Krijger, Ronald R.; Wessels, Marja W.
Abstract
Recurrent copy number variants of the q21.1 region of chromosome 1 have been associated with variable clinical features, including developmental delay, mild to moderate intellectual disability, psychiatric and behavioral problems, congenital heart malformations, and craniofacial abnormalities. A subset of individuals is clinically unaffected. We describe a unique 3-generation family with a large recurrent 1q21.1 microduplication (BP2-BP4). Our observations underline the incomplete penetrance and phenotypic variability of this rearrangement. We also confirm the association with congenital heart malformations, chronic depression, and anxiety. Furthermore, we report a broader range of dysmorphic features. The extreme phenotypic heterogeneity observed in this family suggests that additional factors modify the clinical phenotype. (C) 2015 S. Karger AG, Basel.
COA
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