Cornelia de Lange syndrome (CDLS) is a clinically and genetically heterogeneous developmental disorder characterized by multiple malformations. Primarily, affected individuals have unique and recognizable dysmorphic facial features, cleft palate, distal limb defects, growth retardation, and developmental delay. However, also milder, as well as slightly phenotypically different forms exist. We described herein a patient with CDLS5, an X-linked form, caused by mutations in the HDAC8 gene inherited form the mosaic mother. Analysis of results from whole exome sequencing identified two variants with possible impact on the phenotype. Of them, hemizygous variant (c.938G>A, p.Arg313Gln) inherited from the mosaic mother, was further proved to lead to disease in the proband. Our intention was to delineate this syndrome but also point out the clinical course of the disease, which only in combination with a facial phenotype allow for verification of exome sequencing result.
aDepartment of Genetics and Clinical Immunology, National Institute of Tuberculosis and Lung Diseases
bDepartment of Medical Genetics, Warsaw Medical University
cPostgraduate School of Molecular Medicine
dDepartment of Medical Genetics, The Children’s Memorial Health Institute
eDepartment of Audiology and Phoniatry, The Children’s Memorial Health Institute
fNeuromuscular Unit, Mossakowski Medical Research Centre, Polish Academy of Sciences, Warsaw, Poland
* Dr. Jezela-Stanek and Mr. Murcia Pienkowski contributed equally to the writing of this article.
Received 26 October 2018 Accepted 5 March 2019
Correspondence to Aleksandra Jezela-Stanek, MD, PhD, Department of Genetics and Clinical Immunology, National Institute of Tuberculosis and Lung Diseases, 01-138 Warsaw, Poland, Tel; +48 228 157 452; fax: +48 22 43-12-358; e-mail: firstname.lastname@example.org