Craniosynostosis is a feature of CHD7‐related CHARGE syndrome

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 pa...

Full description

Saved in:
Bibliographic Details
Published inAmerican journal of medical genetics. Part A Vol. 185; no. 7; pp. 2160 - 2163
Main Authors De Luca, Chiara, Picone, Simonetta, Cassina, Matteo, Marziali, Simone, Morlino, Silvia, Camerota, Letizia, Tamburrini, Gianpiero, Castori, Marco, Paolillo, Piermichele, Salviati, Leonardo, Brancati, Francesco
Format Journal Article
LanguageEnglish
Published Hoboken, USA John Wiley & Sons, Inc 01.07.2021
Wiley Subscription Services, Inc
Subjects
Online AccessGet full text
ISSN1552-4825
1552-4833
1552-4833
DOI10.1002/ajmg.a.62208

Cover

More Information
Summary: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.
Bibliography:ObjectType-Article-1
SourceType-Scholarly Journals-1
ObjectType-Feature-2
content type line 14
ObjectType-Case Study-2
ObjectType-Feature-4
content type line 23
ObjectType-Report-1
ObjectType-Article-3
ISSN:1552-4825
1552-4833
1552-4833
DOI:10.1002/ajmg.a.62208