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

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Abstract

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.

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Grossi, A., Morelli, F., Di Duca, M., Caroli, F., Moroni, I., Tonduti, D., … Ceccherini, I. (2021). Parental Somatic Mosaicism Uncovers Inheritance of an Apparently De Novo GFAP Mutation. Frontiers in Genetics, 12. https://doi.org/10.3389/fgene.2021.744068

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