Familial recurrences of FOXG1-related disorder: Evidence for mosaicism

Kelly Q. Mcmahon, Apostolos Papandreou, Mandy Ma, Brenda J. Barry, Ghayda M. Mirzaa, William B. Dobyns, Richard H. Scott, Natalie Trump, Manju A. Kurian, Alex R. Paciorkowski

Research output: Contribution to journalArticlepeer-review

19 Scopus citations


FOXG1-related disorders are caused by heterozygous mutations in FOXG1 and result in a spectrum of neurodevelopmental phenotypes including postnatal microcephaly, intellectual disability with absent speech, epilepsy, chorea, and corpus callosum abnormalities. The recurrence risk for de novo mutations in FOXG1-related disorders is assumed to be low. Here, we describe three unrelated sets of full siblings with mutations in FOXG1 (c.515_577del63, c.460dupG, and c.572T>G), representing familial recurrence of the disorder. In one family, we have documented maternal somatic mosaicism for the FOXG1 mutation, and all of the families presumably represent parental gonadal (or germline) mosaicism. To our knowledge, mosaicism has not been previously reported in FOXG1-related disorders. Therefore, this report provides evidence that germline mosaicism for FOXG1 mutations is a likely explanation for familial recurrence and should be considered during recurrence risk counseling for families of children with FOXG1-related disorders.

Original languageEnglish (US)
Pages (from-to)3096-3102
Number of pages7
JournalAmerican Journal of Medical Genetics, Part A
Issue number12
StatePublished - Dec 1 2015
Externally publishedYes

Bibliographical note

Funding Information:
We gratefully acknowledge our research families and the FOXG1 Foundation. This work was supported by the National Institutes of Health, National Institute of Neurologic Disorders and Stroke under award number K08NS078054 (to ARP).

Publisher Copyright:
© 2015 Wiley Periodicals, Inc.


  • 14q12
  • FOXG1
  • Familial recurrence
  • Gonadal mosaicism


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