APC -Related Phenotypes and Intellectual Disability in 5q Interstitial Deletions: A New Case and Review of the Literature

• Published in: Genes Vol. 14; no. 7; p. 1505
• Main Authors: Privitera, Flavia, Piccini, Flavia, Recalcati, Maria Paola, Presi, Silvia, Mazzola, Silvia, Carrera, Paola
• Format: Journal Article
• Language: English
• Published: Switzerland MDPI AG 23.07.2023; MDPI
• Subjects: 5q deletion syndrome; Adenomatous Polyposis Coli - genetics; APC gene; array-CGH; Cancer; Chromosome 5; Chromosome Aberrations; Chromosome Deletion; Familial adenomatous polyposis; Family medical history; Gastrointestinal tract; Gene deletion; Genes; Genetic counseling; Genetic testing; Genetics; Genomes; Genomics; Genotype & phenotype; Humans; Intellectual disabilities; intellectual disability; Intellectual Disability - genetics; KCNN2; Literature reviews; Malignancy; Phenotype; Phenotypes; Siblings; Software; Italy; United Kingdom > UK; France; United States > US; KCNN2; 5q deletion syndrome; intellectual disability; array-CGH
• ISSN: 2073-4425; 2073-4425
• DOI: 10.3390/genes14071505

The 5q deletion syndrome is a relatively rare condition caused by the monoallelic interstitial deletion of the long arm of chromosome 5. Patients described in literature usually present variable dysmorphic features, behavioral disturbance, and intellectual disability (ID); moreover, the involvement of the gene (5q22.2) in the deletion predisposes them to tumoral syndromes (Familial Adenomatous Polyposis and Gardner syndrome). Although the development of gastrointestinal tract malignancies has been extensively described, the genetic causes underlying neurologic manifestations have never been investigated. In this study, we described a new patient with a 19.85 Mb interstitial deletion identified by array-CGH and compared the deletions and the phenotypes reported in other patients already described in the literature and the Decipher database. Overlapping deletions allowed us to highlight a common region in 5q22.1q23.1, identifying (5q22.3) as the most likely candidate gene contributing to the neurologic phenotype.