Sinus pericranii, skull defects, and structural brain anomalies in TRAF7‐related disorder. Issue 14 (27th May 2020)

• Record Type: Journal Article
• Authors: Accogli, Andrea; Scala, Marcello; Pavanello, Marco; Severino, Mariasavina; Gandolfo, Carlo; De Marco, Patrizia; Musacchia, Francesco; Torella, Annalaura; Pinelli, Michele; Nigro, Vincenzo; Capra, Valeria
• Is Part Of: Birth defects research. Volume 112:Issue 14(2020)
• Page Start: 1085
• Page End: 1092
• Publication Date: 2020-05-27
• Subjects: cranio‐cervical junction anomaly -- craniosynostosis -- dysgyria -- RASopathies -- sinus pericranii -- TRAF7; Teratology -- Periodicals; Abnormalities, Human -- Periodicals; Congenital Abnormalities; Embryo, Mammalian -- abnormalities; Teratology; Abnormalities, Human; Teratology; Periodicals; Periodicals; 616.043
• DOI: 10.1002/bdr2.1711
• Languages: English
• ISSNs: 2472-1727

Abstract

Abstract: 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.