Familial recurrences of FOXG1-related disorder: Evidence for mosaicism.

@article{McMahon2015FamilialRO,
  title={Familial recurrences of FOXG1-related disorder: Evidence for mosaicism.},
  author={Kelly Q. McMahon and Apostolos Papandreou and Mandy Ma and Brenda J. Barry and Ghayda M Mirzaa and William B Dobyns and Richard H. Scott and Natalie Trump and Manju A. Kurian and Alex R. Paciorkowski},
  journal={American journal of medical genetics. Part A},
  year={2015},
  volume={167A 12},
  pages={
          3096-102
        }
}
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… CONTINUE READING
1
Twitter Mention

Citations

Publications citing this paper.
SHOWING 1-9 OF 9 CITATIONS

Expanding the neurodevelopmental phenotype of PURA syndrome.

  • American journal of medical genetics. Part A
  • 2018
VIEW 1 EXCERPT
CITES BACKGROUND

Somatic-gonadal mosaicism causing Sotos syndrome.

  • American journal of medical genetics. Part A
  • 2016
VIEW 2 EXCERPTS
CITES BACKGROUND