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

Chiara Barone, Sebastiano Bianca, Daniela Luciano, Daniela Di Benedetto, Mirella Vinci, Marco Fichera

Research output: Contribution to journalArticle

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 285Kb 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.

Original languageEnglish
Pages (from-to)1381-1385
Number of pages5
JournalAmerican Journal of Medical Genetics, Part A
Volume161
Issue number6
DOIs
Publication statusPublished - Jun 2013

Keywords

  • Bilateral neurosensorial progressive deafness
  • IL1RAPL1
  • Intragenic deletion
  • X-linked intellectual disability (XLID)

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

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