Haploinsufficiency of ZNF462 is associated with craniofacial anomalies, corpus callosum dysgenesis, ptosis, and developmental delay

Karin Weiss, Kristen Wigby, Madeleine Fannemel, Lindsay B. Henderson, Natalie Beck, Neeti Ghali, D. D.D. Study, Britt Marie Anderlid, Johanna Lundin, Ada Hamosh, Marilyn C. Jones, Sondhya Ghedia, Maximilian Muenke, Paul Kruszka

Research output: Contribution to journalArticlepeer-review

Abstract

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.

Original languageEnglish (US)
Pages (from-to)946-951
Number of pages6
JournalEuropean Journal of Human Genetics
Volume25
Issue number8
DOIs
StatePublished - Aug 1 2017

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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