Rare form of autosomal dominant familial Cornelia de Lange syndrome due to a novel duplication in SMC3

Elena Infante; Gorka Alkorta-Aranburu; Areeg El-Gharbawy

doi:10.1002/ccr3.1010

Rare form of autosomal dominant familial Cornelia de Lange syndrome due to a novel duplication in SMC3

Clin Case Rep. 2017 Jun 28;5(8):1277-1283. doi: 10.1002/ccr3.1010. eCollection 2017 Aug.

Authors

Elena Infante¹, Gorka Alkorta-Aranburu², Areeg El-Gharbawy^{1

3}

Affiliations

¹ Department of Pediatrics Division of Medical Genetics Children's Hospital of Pittsburgh of UPMC Pittsburgh Pennsylvania.
² Department of Human Genetics The University of Chicago Chicago Illinois.
³ University of Pittsburgh School of Medicine Children's Hospital of Pittsburgh of UPMC Pittsburgh Pennsylvania.

Abstract

Clinical features are variable in patients with Cornelia de Lange syndrome (CdLS). Milder forms exist with structural maintenance of chromosomes 3 (SMC3) mutations. Inherited milder forms of CdLS are uncommon and may be missed if genetic testing is limited to Nipped-B-like protein (NIPBL) and SMC1A. Parental studies should be pursued if there is a history of learning disabilities and/or dysmorphic features.

Keywords: CdLS; Cornelia de Lange; SMC3; dominant inheritance; duplication; familial; mild phenotype.

Publication types

Case Reports