Sinus pericranii, skull defects, and structural brain anomalies in TRAF7-related disorder.
RASopathies
TRAF7
cranio-cervical junction anomaly
craniosynostosis
dysgyria
sinus pericranii
Journal
Birth defects research
ISSN: 2472-1727
Titre abrégé: Birth Defects Res
Pays: United States
ID NLM: 101701004
Informations de publication
Date de publication:
08 2020
08 2020
Historique:
received:
05
03
2020
accepted:
25
04
2020
pubmed:
28
5
2020
medline:
19
8
2021
entrez:
28
5
2020
Statut:
ppublish
Résumé
Several somatic mutations in TRAF7 have been reported in cancers, whereas a few germline heterozygous mutations have been recently linked to a neurodevelopmental disorder, characterized by craniofacial dysmorphisms, congenital heart defects, and digital anomalies. We report two subjects harboring de novo heterozygous missense variants in TRAF7, namely the recurrent 1964G>A(p.Arg655Gln) and the novel missense c.1204C>G(p.Leu402Val) variants. In addition to the typical hallmarks of the TRAF7-related disorder, both subjects presented with a recognizable "pear-shaped" skull due to multiple craniosynostosis, sinus pericranii, skull base/cranio-cervical junction anomalies, dysgyria, and inferior cerebellar vermis hypoplasia. Hence, we expand the genotypic and phenotypic spectrum of this neurodevelopmental disorder, discussing possible implications for clinical management of subjects with germline TRAF7 mutations.
Sections du résumé
BACKGROUND
Several somatic mutations in TRAF7 have been reported in cancers, whereas a few germline heterozygous mutations have been recently linked to a neurodevelopmental disorder, characterized by craniofacial dysmorphisms, congenital heart defects, and digital anomalies.
CASES
We report two subjects harboring de novo heterozygous missense variants in TRAF7, namely the recurrent 1964G>A(p.Arg655Gln) and the novel missense c.1204C>G(p.Leu402Val) variants. In addition to the typical hallmarks of the TRAF7-related disorder, both subjects presented with a recognizable "pear-shaped" skull due to multiple craniosynostosis, sinus pericranii, skull base/cranio-cervical junction anomalies, dysgyria, and inferior cerebellar vermis hypoplasia.
CONCLUSIONS
Hence, we expand the genotypic and phenotypic spectrum of this neurodevelopmental disorder, discussing possible implications for clinical management of subjects with germline TRAF7 mutations.
Substances chimiques
TRAF7 protein, human
0
Tumor Necrosis Factor Receptor-Associated Peptides and Proteins
0
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
1085-1092Informations de copyright
© 2020 Wiley Periodicals, Inc.
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