@article {1470993,
	title = {Phenotype delineation of ZNF462 related syndrome},
	journal = {Am J Med Genet A},
	volume = {179},
	number = {10},
	year = {2019},
	month = {2019 Oct},
	pages = {2075-2082},
	abstract = {Zinc finger protein 462 (ZNF462) is a relatively newly discovered vertebrate specific protein with known critical roles in embryonic development in animal models. Two case reports and a case series study have described the phenotype of 10 individuals with ZNF462 loss of function variants. Herein, we present 14 new individuals with loss of function variants to the previous studies to delineate the syndrome of loss of function in ZNF462. Collectively, these 24 individuals present with recurring phenotypes that define a multiple congenital anomaly syndrome. Most have some form of developmental delay (79\%) and a minority has autism spectrum disorder (33\%). Characteristic facial features include ptosis (83\%), down slanting palpebral fissures (58\%), exaggerated Cupid{\textquoteright}s bow/wide philtrum (54\%), and arched eyebrows (50\%). Metopic ridging or craniosynostosis was found in a third of study participants and feeding problems in half. Other phenotype characteristics include dysgenesis of the corpus callosum in 25\% of individuals, hypotonia in half, and structural heart defects in 21\%. Using facial analysis technology, a computer algorithm applying deep learning was able to accurately differentiate individuals with ZNF462 loss of function variants from individuals with Noonan syndrome and healthy controls. In summary, we describe a multiple congenital anomaly syndrome associated with haploinsufficiency of ZNF462 that has distinct clinical characteristics and facial features.},
	issn = {1552-4833},
	doi = {10.1002/ajmg.a.61306},
	author = {Kruszka, Paul and Hu, Tommy and Hong, Sungkook and Signer, Rebecca and Cogn{\'e}, Benjamin and Isidor, Betrand and Mazzola, Sarah E and Giltay, Jacques C and van Gassen, Koen L I and England, Eleina M and Pais, Lynn and Ockeloen, Charlotte W and Sanchez-Lara, Pedro A and Kinning, Esther and Adams, Darius J and Treat, Kayla and Torres-Martinez, Wilfredo and Bedeschi, Maria F and Iascone, Maria and Blaney, Stephanie and Bell, Oliver and Tan, Tiong Y and Delrue, Marie-Ange and Jurgens, Julie and Barry, Brenda J and Engle, Elizabeth C and Savage, Sarah K and Fleischer, Nicole and Martinez-Agosto, Julian A and Boycott, Kym and Zackai, Elaine H and Muenke, Maximilian}
}
