In the original article, there was an error in the Introduction section. The phrase “siblings of parents” seems to imply the aunts and uncles of the affected child, rather than the siblings of the child, as it should be. A correction has been made in the Introduction section:
Alexander disease (AxD) is an extremely rare, untreatable, and usually fatal neurodegenerative disorder (OMIM #203450), classified among leukodystrophies due to white matter deficits (Messing and Brenner, 2020). It is estimated to affect 1:2.7 million people in Japan (Yoshida et al., 2011). The disease presents at different ages of onset, with distinct symptoms and prognosis: in neonates and early childhood (type I) and later, though not restricted to adulthood (type II) (Prust et al., 2011). AxD is caused by heterozygous mutations of glial fibrillary acidic protein (GFAP) gene, which eventually lead to the formation of aggregates, also containing alphaB-crystallin, HSP27, ubiquitin, and proteasome components (Quinlan et al., 2007). To date, a broad spectrum of pathogenic GFAP variants accounts for more than 90% of patients. Mutations occur either de novo or through transmission from the parental generation. A recurrent occurrence of the same disease-causing GFAP mutation in siblings from parents who tested negative for the variant strongly suggests the presence of a germinal mosaicism (Melchionda et al., 2013) (two affected siblings were also reported by Namekawa et al. (2002), but the parents were not examined). Indirect evidence for germinal mosaicism in de novo AxD cases has also been provided by studies finding that the de novo mutations predominantly arise on the paternal chromosome (Li et al., 2006; Zang et al., 2013). Such a condition may be associated with somatic mosaicism, a circumstance nevertheless unproven so far (Messing, 2018). In the case of AxD, the risk of transmitting a GFAP mutation to a second child by germline mosaicism has been estimated as less than 1% (Messing, 2018); however, when significant somatic mosaicism is observed in a parent, the risk of recurrence could be substantially higher.
Also, a reference “Li et al., 2006” was cited but was not included in the reference section. A correction has been made to the Reference list.
The authors apologize for this error and state that this does not change the scientific conclusions of the article in any way. The original article has been updated.
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References
1
LiR.JohnsonA. B.SalomonsG. S.van der KnaapM. S.RodriguezD.Boespflug-TanguyO.et al (2006). Propensity for Paternal Inheritance of De Novo Mutations in Alexander Disease. Hum. Genet.119 (1–2), 137–144. 10.1007/s00439-005-0116-7
Summary
Keywords
central nervous system diseases, genetic counseling, human genetics, DNA sequence analysis, germline mosaicism, somatic mosaicism, GFAP gene, Alexander disease
Citation
Grossi A, Morelli F, Di Duca M, Caroli F, Moroni I, Tonduti D, Bachetti T and Ceccherini I (2022) Corrigendum: Parental Somatic Mosaicism Uncovers Inheritance of an Apparently De Novo GFAP Mutation. Front. Genet. 13:877443. doi: 10.3389/fgene.2022.877443
Received
16 February 2022
Accepted
24 February 2022
Published
21 March 2022
Approved by
Frontiers Editorial Office, Frontiers Media SA, Switzerland
Volume
13 - 2022
Updates
Copyright
© 2022 Grossi, Morelli, Di Duca, Caroli, Moroni, Tonduti, Bachetti and Ceccherini.
This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
*Correspondence: Isabella Ceccherini, isabellaceccherini@gaslini.org
†Present address: Federico Morelli, uniQure N.V., Amsterdam, Netherlands; Marco Di Duca, UOC Genetica Medica, IRCCS Istituto Giannina Gaslini, Genova, Italy; Francesco Caroli, UOC Genetica Medica, IRCCS Istituto Giannina Gaslini, Genova, Italy; Tiziana Bachetti, UO Proteomica e Spettrometria di Massa, IRCCS Ospedale Policlinico San Martino, Genoa, Italy
This article was submitted to Neurogenomics, a section of the journal Frontiers in Genetics
Disclaimer
All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article or claim that may be made by its manufacturer is not guaranteed or endorsed by the publisher.