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8. Human Bacterial Artificial Chromosome (BAC) Transgenesis Fully Rescues Noradrenergic Function in Dopamine β-Hydroxylase Knockout Mice

Author

Cubells, Joseph F., primary, Schroeder, Jason P., additional, Barrie, Elizabeth S., additional, Manvich, Daniel F., additional, Sadee, Wolfgang, additional, Berg, Tiina, additional, Mercer, Kristina, additional, Stowe, Taylor A., additional, Liles, L. Cameron, additional, Squires, Katherine E., additional, Mezher, Andrew, additional, Curtin, Patrick, additional, Perdomo, Dannie L., additional, Szot, Patricia, additional, and Weinshenker, David, additional

Published
2016
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9. Regulatory Polymorphisms in Human DBH Affect Peripheral Gene Expression and Sympathetic Activity

Author

Barrie, Elizabeth S., primary, Weinshenker, David, additional, Verma, Anurag, additional, Pendergrass, Sarah A., additional, Lange, Leslie A., additional, Ritchie, Marylyn D., additional, Wilson, James G., additional, Kuivaniemi, Helena, additional, Tromp, Gerard, additional, Carey, David J., additional, Gerhard, Glenn S., additional, Brilliant, Murray H., additional, Hebbring, Scott J., additional, Cubells, Joseph F., additional, Pinsonneault, Julia K., additional, Norman, Greg J., additional, and Sadee, Wolfgang, additional

Published
2014
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10. De novo loss-of-function variants in NSD2 ( WHSC1 ) associate with a subset of Wolf-Hirschhorn syndrome.

Author

Barrie ES, Alfaro MP, Pfau RB, Goff MJ, McBride KL, Manickam K, and Zmuda EJ

Subjects
Child, Preschool, Chromosome Deletion, Developmental Disabilities genetics, Female, Histone-Lysine N-Methyltransferase metabolism, Humans, Infant, Intellectual Disability genetics, Loss of Function Mutation genetics, Male, Phenotype, Repressor Proteins metabolism, Histone-Lysine N-Methyltransferase genetics, Repressor Proteins genetics, Wolf-Hirschhorn Syndrome genetics
Abstract

Wolf-Hirschhorn syndrome (WHS) is a rare but recurrent microdeletion syndrome associated with hemizygosity of an interstitial segment of Chromosome 4 (4p16.3). Consistent with historical reports in which overlapping deletions defined a minimal critical region in WHS patients, recent reports from exome sequence analysis have provided further evidence that haploinsufficiency of a specific gene within this critical region, NSD2 ( WHSC1 ), is causal for many features of the syndrome. In this report, we describe three unrelated patients with loss-of-function alterations in NSD2 who presented clinically with WHS features including intrauterine growth retardation and global developmental delay. Two of the three patients also had overlapping features of failure to thrive, short stature, constipation, and hypotonia. This series adds additional cases to expand the phenotypic spectrum of WHS and reports novel NSD2 variants., (© 2019 Barrie et al.; Published by Cold Spring Harbor Laboratory Press.)

Published
2019
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