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Intragenic ILRAPL1 deletion in a male patient with intellectual disability, mild dysmorphic signs, deafness, and behavioral problems

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. © 2013 Wiley Periodicals, Inc.