Presence of point mutation in APC2 gene in patient presenting Sotos’-like fenotype: a case report

Case presentation: Six-year-old, female, daughter of nonconsanguineous parents, with normal neuropsychomotor development until her first year, posterior developmental regression. At the age 2, she started having absence seizures, evolving to generalized tonic-clonic seizures. Her phenotype exhibits a triangular face, prognathism, hypertrophic gums, and accelerated growth. Additional tests: elevated FSH, IGF-1, IGFBP-3, bone advancement (+3 years), cerebellar vernix hypoplasia, prominent 4th ventricle communicating cisterna magna on MRI, diffuse bilateral point-wave complexes EEG. GTG karyotype 46, XX, CGH Array panel for epilepsy inborn errors without alterations. Complete exome sequencing showing variant uncertain significance (VUS). Due suspicion hypergrowth syndrome, an test was requested, identifying in heterozygosity APC2 gene c.5859_5888del; p.(Gly1952_Ala1961del). Although causal relationship between such Sotos similar phenotypes mutations have already been reported literature.