A Novel Variant in a Patient with Intellectual Disability and Obesity.

Appl Clin Genet

Genetics Division, Fundación Valle del Lili, Cali, Colombia.

Published: July 2022

White-Sutton syndrome is a rare type of autosomal dominant neurodevelopmental disorder caused by mutations, mostly , in the 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 gene (NM_015100.3). This is the first report of a diagnosed patient with WHSUS in Colombia.

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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9271277PMC
http://dx.doi.org/10.2147/TACG.S369483DOI Listing

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