Estudio molecular de pacientes colombianos afectados por enanismo esencial

Abstract

Microcephalic primordial dwarfism syndromes are a group of rare monogenic diseases that are characterized primarily by extreme low stature of prenatal onset and severe microcephaly. In patients who participated in the study, variants in the gene PCNT was investigated because they had clinical findings consistent with the MOPD II (Microcephalic osteodisplastic primordial dwarfism type II) syndrome. The study was expanded with exome sequencing in a patient who presented heterozygous variants in the PCNT gene, which could not explain the phenotype. This find gave room for the discovery of a new variant in the DDX11 gene that allowed for the diagnosis of the Warsaw Breakage syndrome in the patient.