TY - JOUR
T1 - Haploinsufficiency of ZNF462 is associated with craniofacial anomalies, corpus callosum dysgenesis, ptosis, and developmental delay
AU - Weiss, Karin
AU - Wigby, Kristen
AU - Fannemel, Madeleine
AU - Henderson, Lindsay B.
AU - Beck, Natalie
AU - Ghali, Neeti
AU - Study, D. D.D.
AU - Anderlid, Britt Marie
AU - Lundin, Johanna
AU - Hamosh, Ada
AU - Jones, Marilyn C.
AU - Ghedia, Sondhya
AU - Muenke, Maximilian
AU - Kruszka, Paul
N1 - Publisher Copyright:
© 2017 Macmillan Publishers Limited, part of Springer Nature. All rights reserved.
PY - 2017/8/1
Y1 - 2017/8/1
N2 - The introduction of whole-exome sequencing into the Pediatric Genetics clinic has increased the identification of novel genes associated with neurodevelopmental disorders and congenital anomalies. This agnostic approach has shed light on multiple proteins and pathways not previously known to be associated with disease. Here we report eight subjects from six families with predicted loss of function variants in ZNF462, a zinc-finger protein of unknown function. These individuals have overlapping phenotypes that include ptosis, metopic ridging, craniosynostosis, dysgenesis of the corpus callosum, and developmental delay. We propose that ZNF462 plays an important role in embryonic development, and is associated with craniofacial and neurodevelopmental abnormalities.
AB - The introduction of whole-exome sequencing into the Pediatric Genetics clinic has increased the identification of novel genes associated with neurodevelopmental disorders and congenital anomalies. This agnostic approach has shed light on multiple proteins and pathways not previously known to be associated with disease. Here we report eight subjects from six families with predicted loss of function variants in ZNF462, a zinc-finger protein of unknown function. These individuals have overlapping phenotypes that include ptosis, metopic ridging, craniosynostosis, dysgenesis of the corpus callosum, and developmental delay. We propose that ZNF462 plays an important role in embryonic development, and is associated with craniofacial and neurodevelopmental abnormalities.
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U2 - 10.1038/ejhg.2017.86
DO - 10.1038/ejhg.2017.86
M3 - Article
C2 - 28513610
AN - SCOPUS:85019631581
SN - 1018-4813
VL - 25
SP - 946
EP - 951
JO - European Journal of Human Genetics
JF - European Journal of Human Genetics
IS - 8
ER -