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

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

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...

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Bibliographic Details
Main Authors: Alice Grossi, Federico Morelli, Marco Di Duca, Francesco Caroli, Isabella Moroni, Davide Tonduti, Tiziana Bachetti, Isabella Ceccherini
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-12-01
Series:Frontiers in Genetics
Subjects:
central nervous system diseases
genetic counseling
human genetics
DNA sequence analysis
GFAP gene
Alexander disease
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2021.744068/full

Internet

https://www.frontiersin.org/articles/10.3389/fgene.2021.744068/full

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