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  • Title: Sinus pericranii, skull defects, and structural brain anomalies in TRAF7-related disorder.
    Author: Accogli A, Scala M, Pavanello M, Severino M, Gandolfo C, De Marco P, Musacchia F, Torella A, Pinelli M, Nigro V, Capra V.
    Journal: Birth Defects Res; 2020 Aug; 112(14):1085-1092. PubMed ID: 32459067.
    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.
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