Parental somatogonadal COL2A1 mosaicism contributes to intrafamilial recurrence in a family with type 2 collagenopathy.
germline mosaicism
somatogonadal mosaicism
targeted deep sequencing
type 2 collagenopathy
whole exome sequencing
Journal
American journal of medical genetics. Part A
ISSN: 1552-4833
Titre abrégé: Am J Med Genet A
Pays: United States
ID NLM: 101235741
Informations de publication
Date de publication:
03 2020
03 2020
Historique:
received:
20
06
2019
revised:
17
09
2019
accepted:
29
10
2019
pubmed:
20
12
2019
medline:
5
1
2021
entrez:
20
12
2019
Statut:
ppublish
Résumé
The COL2A1 gene encodes the alpha-1 chain of procollagen type 2. Pathogenic variants in the COL2A1 gene are associated with several different types of skeletal dysplasia collectively known as type 2 collagenopathies. Type 2 collagenopathies have an autosomal dominant inheritance. Some germline or somatogonadal mosaicism cases have been reported. We investigated whether somatogonadal mosaicism occurred in a family with two children suspected of type 2 collagenopathies or related diseases. First, we detected a pathogenic variant in the COL2A1 gene in the two affected children by whole exome sequencing (WES). Next, we performed targeted deep sequencing to their parents without the variant by WES. A low level of COL2A1 mosaicism was revealed in the mother's tissues. We concluded that the mother had somatogonadal mosaicism with the COL2A1 mutation arose in the epiblast, and that the intrafamilial recurrence rate of the disease by the somatogonadal mosaicism was higher than by the germline mosaicism. This report suggests that parental low-level mosaicism should be evaluated in those parents with children carrying de novo germline mutations and the targeted deep sequencing is useful to detect them.
Identifiants
pubmed: 31854518
doi: 10.1002/ajmg.a.61422
doi:
Substances chimiques
COL2A1 protein, human
0
Collagen Type II
0
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
454-460Subventions
Organisme : Japan Agency for Medical Research and Development
ID : 16ek0109166h0002
Pays : International
Commentaires et corrections
Type : CommentIn
Informations de copyright
© 2019 Wiley Periodicals, Inc.
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