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

Alexander disease is a leukodystrophy caused by heterozygous mutations of 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 locu...

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Published in:Frontiers in genetics 2021-12, Vol.12, p.744068-744068
Main Authors: Grossi, Alice, Morelli, Federico, Di Duca, Marco, Caroli, Francesco, Moroni, Isabella, Tonduti, Davide, Bachetti, Tiziana, Ceccherini, Isabella
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Language:English
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Alexander disease
central nervous system diseases
DNA sequence analysis
genetic counseling
Genetics
GFAP gene
human genetics
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container_title Frontiers in genetics
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Morelli, Federico
Di Duca, Marco
Caroli, Francesco
Moroni, Isabella
Tonduti, Davide
Bachetti, Tiziana
Ceccherini, Isabella
description Alexander disease is a leukodystrophy caused by heterozygous mutations of 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 locus was performed with deep coverage (≥500×) in 11 probands and their parents (trios) with probands heterozygous for apparently 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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subjects Alexander disease
central nervous system diseases
DNA sequence analysis
genetic counseling
Genetics
GFAP gene
human genetics
title Parental Somatic Mosaicism Uncovers Inheritance of an Apparently De Novo GFAP Mutation
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