The Application of Clinical Genetics (Jul 2022)
A Novel POGZ Variant in a Patient with Intellectual Disability and Obesity
Abstract
Sebastian Giraldo-Ocampo,1 Rafael Adrian Pacheco-Orozco,2 Harry Pachajoa2,3 1Universidad del Valle, Cali, Colombia; 2Genetics Division, Fundación Valle del Lili, Cali, Colombia; 3Centro de Investigaciones en Anomalías Congénitas y Enfermedades Raras (CIACER), Cali, ColombiaCorrespondence: Harry Pachajoa, Genetics Division, Fundación Valle del Lili, Carrera 98 # 18-49, Cali, Colombia, Tel +57 5552334 ext 7653, Email [email protected]: White–Sutton syndrome is a rare type of autosomal dominant neurodevelopmental disorder caused by mutations, mostly de novo, in the POGZ gene. No more than 120 patients have been described so far in the literature. Common clinical manifestations include intellectual disability, developmental delay, autism spectrum disorder, other behavioral abnormalities, sleeping problems, hyperactivity and visual problems. We describe a 20-year-old male patient from Colombia who presented with delayed psychomotor development, intellectual disability, obesity, sleep difficulties, hypotonia, hypogonadism, gynecomastia, visual abnormalities and several facial dysmorphisms. Genetic testing showed a novel heterozygous frameshift variant (c.3308del; p.Leu1103Profs*19) in the POGZ gene (NM_015100.3). This is the first report of a diagnosed patient with WHSUS in Colombia.Keywords: WHSUS, neurodevelopmental disorder, Colombia, case report
