A Novel POGZ Variant in a Patient with Intellectual Disability and Obesity.
Sebastian Giraldo-OcampoRafael Adrian Pacheco-OrozcoHarry PachajoaPublished in: The application of clinical genetics (2022)
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.
Keyphrases
- intellectual disability
- autism spectrum disorder
- case report
- metabolic syndrome
- attention deficit hyperactivity disorder
- insulin resistance
- mental health
- end stage renal disease
- weight loss
- type diabetes
- ejection fraction
- systematic review
- copy number
- chronic kidney disease
- weight gain
- newly diagnosed
- genome wide
- prognostic factors
- high fat diet induced
- physical activity
- photodynamic therapy
- gene expression
- peritoneal dialysis
- adipose tissue
- dna methylation
- genome wide identification
- congenital heart disease
- patient reported outcomes
- soft tissue