Rare 3q28 Deletion in Patient with Autism Spectrum Disorder in Manaus, Brazil: A Case Report

Genetic factors, such as variations in the number of copies resulting from chromosomal alterations, have been associated with autism spectrum disorder. To report on a patient with autism spectrum disorder associated with 3q28 deletion and the importance of this alteration in the etiology of the disorder. Male patient, 5 years and 11 months of age, evaluated by a medical geneticist. Son of non-consanguineous parents with no genetic family history. Clinical picture include delayed psychomotor development, hypotonia and pigment alterations. Karyotype was normal, CGH (comparative genomic hybridization) SNP (single nucleotide polymorphism) array detected a 3q28 deletion, classified as a variant of uncertain meaning. Thus, 3q28 deletion does not overlap with known syndromes. The FGF12 gene was partially lost in the 3q28 deletion and the haploinsufficiency of this gene contributed to the patient's phenotype. Therefore, this study highlights the importance of cytogenomic analysis as also leading to the prognosis, treatment and performance of genetic counseling.