title: Intragenic ILRAPL1 deletion in a male patient with intellectual disability, mild dysmorphic signs, deafness, and behavioral problems.
abstract: Intellectual disability affects approximately 2% of the population, with affected males outnumbering affected female, partly due to disturbances involving X-linked genes. To date >90 genes associated with X-linked intellectual disability have been identified and, among these, IL1RAPL1 (interleukin 1 receptor accessory protein-like 1), was first described and mapped to Xp21.3-22.1 in 1999. Intragenic deletions of IL1RAPL1, only rarely identified, have mostly been associated with nonspecific intellectual disability (IDX) and autism spectrum disorder. Array-CGH analysis performed in our patient with intellectual disability, mild dysmorphic signs and changes in behavior identified a 285 Kb deletion in chromosome Xp21.3-21.2, with breakpoints lying in IL1RAPL1 gene intron 2 and intron 3. This is the first patient reported in literature with deletion of only exon 3 of IL1RAPL1 gene. Our patient also exhibits bilateral progressive neurosensorial deafness, which has not been previously associated with IL1RAPL1 mutations.
authors.affiliation: Centro di Consulenza Genetica e Teratologia della Riproduzione, Dipartimento Materno Infantile, ARNAS Garibaldi Nesima, Catania, Italy.
authors.forename: Chiara
authors.initials: C
authors.lastname: Barone
authors.forename: Sebastiano
authors.initials: S
authors.lastname: Bianca
authors.forename: Daniela
authors.initials: D
authors.lastname: Luciano
authors.forename: Daniela
authors.initials: D
authors.lastname: Di Benedetto
authors.forename: Mirella
authors.initials: M
authors.lastname: Vinci
authors.forename: Marco
authors.initials: M
authors.lastname: Fichera
mesh_terms: D000328:Adult; D055028:Comparative Genomic Hybridization; D003638:Deafness / Q000235:genetics; D005091:Exons / Q000235:genetics; D050172:Genes, X-Linked / Q000235:genetics; D056726:Genetic Association Studies; D005838:Genotype; D006801:Humans; D053577:Interleukin-1 Receptor Accessory Protein / Q000235:genetics*; D008297:Male; D038901:X-Linked Intellectual Disability / Q000235:genetics*; D010641:Phenotype; D017384:Sequence Deletion
chemical_list: D053577:Interleukin-1 Receptor Accessory Protein