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...
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Published in | American journal of medical genetics. Part A Vol. 185; no. 7; pp. 2160 - 2163 |
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Main Authors | , , , , , , , , , , |
Format | Journal Article |
Language | English |
Published |
Hoboken, USA
John Wiley & Sons, Inc
01.07.2021
Wiley Subscription Services, Inc |
Subjects | |
Online Access | Get full text |
ISSN | 1552-4825 1552-4833 1552-4833 |
DOI | 10.1002/ajmg.a.62208 |
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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. |
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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 |