White-Sutton syndrome and congenital heart disease: case report and literature review

Abstract

AbstractBackgroundWhite-Sutton syndrome is an autosomal dominant neurodevelopmental disorder caused by heterozygous mutation inPOGZ(Pogo Transposable Element Derived with ZNF Domain). This syndrome is characterized by delayed psychomotor development apparent in infancy and abnormal facial features. To date, 80 cases have been reported in the literature; however, the phenotypic characterizations remain incomplete.Case presentationWe herein describe a 2-year-old girl harboring a novel frameshift de novoPOGZvariant: c.2746del (p.Thr916ProfsTer12). This patient presented with multisystem abnormalities affecting the digestive tract and neurological functioning, as well as congenital heart disease, which involved an atrial septal defect (18 × 23 × 22 mm) with pulmonary arterial hypertension (42 mmHg). The relationship between congenital heart disease and White-Sutton syndrome as described in both the GeneReview and OMIM databases (#616,364) remains unclear. A review of the current literature revealed 18 cases of White-Sutton syndrome withPOGZvariants and congenital heart disease, and we summarize their clinical features in this study.ConclusionsOur findings based on the present case and those in the literature indicate a relationship betweenPOGZmutation and congenital heart disease.