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Article

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

American journal of medical genetics. Part A - 1 Jun 2013

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

Abstract excerpt

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...

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PMID: 23613341
DOI: 10.1002/ajmg.a.35860

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