Intragenic ILRAPL1 deletion in a male patient with intellectual disability, mild dysmorphic signs, deafness, and behavioral problems. Issue 6 (23rd April 2013)

• Record Type: Journal Article
• Authors: Barone, Chiara; Bianca, Sebastiano; Luciano, Daniela; Di Benedetto, Daniela; Vinci, Mirella; Fichera, Marco
• Is Part Of: American journal of medical genetics. Volume 161:Issue 6(2013:Jun.)
• Page Start: 1381
• Page End: 1385
• Publication Date: 2013-04-23
• Subjects: Medical genetics -- Periodicals; 616.14205
• DOI: 10.1002/ajmg.a.35860
• Languages: English
• ISSNs: 1552-4825

Abstract

<abstract abstract-type="main" xml:lang="en"> <title>Abstract</title> <sec id="ajmga35860-sec-0001" sec-type="section"> <p>Intellectual disability affects approximately 2% of the population, with affected males outnumbering affected female, partly due to disturbances involving X‐linked genes. To date &gt;90 genes associated with X‐linked intellectual disability have been identified and, among these, <italic>IL1RAPL1</italic> (interleukin 1 receptor accessory protein‐like 1), was first described and mapped to Xp21.3‐22.1 in 1999. Intragenic deletions of <italic>IL1RAPL1</italic>, 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 <italic>IL1RAPL1</italic> gene intron 2 and intron 3. This is the first patient reported in literature with deletion of only exon 3 of <italic>IL1RAPL1</italic> gene. Our patient also exhibits bilateral progressive neurosensorial deafness, which has not been previously associated with <italic>IL1RAPL1</italic> mutations. © 2013 Wiley Periodicals, Inc.</p> </sec> </abstract>