Craniosynostosis is a feature of CHD7‐related CHARGE syndrome. Issue 7 (12th April 2021)

• Record Type: Journal Article
• Authors: De Luca, Chiara; Picone, Simonetta; Cassina, Matteo; Marziali, Simone; Morlino, Silvia; Camerota, Letizia; Tamburrini, Gianpiero; Castori, Marco; Paolillo, Piermichele; Salviati, Leonardo; Brancati, Francesco
• Is Part Of: American journal of medical genetics. Volume 185:Issue 7(2021)
• Page Start: 2160
• Page End: 2163
• Publication Date: 2021-04-12
• Subjects: CHARGE syndrome -- CHD7 -- craniosynostosis; Medical genetics -- Periodicals; 616.14205
• DOI: 10.1002/ajmg.a.62208
• Languages: English
• ISSNs: 1552-4825

Abstract

Abstract: CHARGE syndrome is a rare genetic multiple‐malformation disorder characterized by wide phenotypic variability. It is often caused by heterozygous variants in CHD7 and, more rarely, SEMA3E . Although craniofacial alterations are frequent in this condition, to date craniosynostosis is not considered part of the clinical spectrum. Here, we report bi‐coronal craniosynostosis in a newborn affected by CHARGE syndrome caused by the de novo heterozygous c.6157C>T, p.(Arg2053*) CHD7 variant. We found two additional subjects in the literature with different craniosynostoses and distinct CHD7 alterations. The inclusion of CHD7 ‐related CHARGE syndrome in the group of rare causes of syndromic craniosynostoses is proposed.