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Alexander disease is a leukodystrophy caused by heterozygous mutations of  GFAP  gene. Recurrence in siblings from healthy parents provides a confirmation to the transmission of variants through germinal mosaicism. With the use of DNA isolated from peripheral blood, next-generation sequencing (NGS) of  GFAP  locus was performed with deep coverage (≥500×) in 11 probands and their parents (trios) with probands heterozygous for apparently  de novo GFAP  mutations. Indeed, one parent had somatic mosaicism, estimated in the range of 8.9%–16%, for the mutant allele transmitted to the affected sibling. Parental germline mosaicism deserves attention, as it is critical in assessing the risk of recurrence in families with Alexander disease.

Parental Somatic Mosaicism Uncovers Inheritance of an Apparently De Novo GFAP Mutation