Sinus pericranii, skull defects, and structural brain anomalies in TRAF7-related disorder.
Birth Defects Res
; 112(14): 1085-1092, 2020 08.
Article
em En
| MEDLINE
| ID: mdl-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.Palavras-chave
Texto completo:
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Base de dados:
MEDLINE
Assunto principal:
Craniossinostoses
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Seio Pericrânio
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Transtornos do Neurodesenvolvimento
Idioma:
En
Ano de publicação:
2020
Tipo de documento:
Article