Familial recurrences of FOXG1‐related disorder: Evidence for mosaicism

Publisher: John Wiley & Sons Inc

E-ISSN: 1552-4833|167|12|3096-3102

ISSN: 1552-4825

Source: American Journal Of Medical Genetics Part A, Vol.167, Iss.12, 2015-12, pp. : 3096-3102

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Abstract

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. © 2015 Wiley Periodicals, Inc.

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