De Luca Chiara, Picone Simonetta, Cassina Matteo, Marziali Simone, Morlino Silvia, Camerota Letizia, Tamburrini Gianpiero, Castori Marco, Paolillo Piermichele, Salviati Leonardo, Brancati Francesco
Human Genetics, Department of Life, Health and Environmental Sciences, University of L'Aquila, L'Aquila, Italy.
Neonatology and Neonatal Intensive Care, Policlinico Casilino Hospital, Rome, Italy.
Am J Med Genet A. 2021 Jul;185(7):2160-2163. doi: 10.1002/ajmg.a.62208. Epub 2021 Apr 12.
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.
CHARGE综合征是一种罕见的遗传性多发畸形疾病，具有广泛的表型变异性。它通常由CHD7基因的杂合变异引起，较少由SEMA3E基因变异引起。尽管颅面改变在这种疾病中很常见，但迄今为止，颅缝早闭并不被认为是临床症状谱的一部分。在此，我们报告了一名患有CHARGE综合征的新生儿出现双冠状缝颅缝早闭，该患儿由新生杂合c.6157C>T，p.(Arg2053*) CHD7变异引起。我们在文献中还发现了另外两名患有不同颅缝早闭且CHD7改变不同的患者。我们建议将与CHD7相关的CHARGE综合征纳入综合征性颅缝早闭的罕见病因组。
