title: Deletion of the immunoglobulin domain of IL1RAPL1 results in nonsyndromic X-linked intellectual disability associated with behavioral problems and mild dysmorphism.
abstract: X-Linked intellectual disability accounts for a significant fraction of males with cognitive impairment. Many of these males present with a non-syndromic phenotype and presently mutations in 17 X-linked genes are associated with these patients. Mutations in IL1RAPL1 have been found in multiple families with non-syndromic X-linked intellectual disability. All of the published mutations predict loss of function of the protein. We have identified an additional two families with deletions of a portion of the gene that give rise to cognitive impairment, as well as some behavioral problems and mild dysmorphism. Our clinical findings better delineate the phenotypic spectrum associated with IL1RAPL1 mutations.
authors.affiliation: Center for Molecular Studies, J.C. Self Research Institute of Human Genetics, Greenwood Genetic Center, South Carolina, USA.
authors.forename: Karl J
authors.initials: KJ
authors.lastname: Franek
authors.forename: Julia
authors.initials: J
authors.lastname: Butler
authors.forename: John
authors.initials: J
authors.lastname: Johnson
authors.forename: Richard
authors.initials: R
authors.lastname: Simensen
authors.forename: Michael J
authors.initials: MJ
authors.lastname: Friez
authors.forename: Frank
authors.initials: F
authors.lastname: Bartel
authors.forename: Tonya
authors.initials: T
authors.lastname: Moss
authors.forename: Barbara
authors.initials: B
authors.lastname: DuPont
authors.forename: Katherine
authors.initials: K
authors.lastname: Berry
authors.forename: Margaret
authors.initials: M
authors.lastname: Bauman
authors.forename: Cindy
authors.initials: C
authors.lastname: Skinner
authors.forename: Roger E
authors.initials: RE
authors.lastname: Stevenson
authors.forename: Charles E
authors.initials: CE
authors.lastname: Schwartz
mesh_terms: D000595:Amino Acid Sequence; D005260:Female; D017353:Gene Deletion; D006801:Humans; D053577:Interleukin-1 Receptor Accessory Protein / Q000235:genetics*; D008297:Male; D001523:Mental Disorders / Q000235:genetics*; D038901:X-Linked Intellectual Disability / Q000235:genetics*; D008969:Molecular Sequence Data; D010375:Pedigree
chemical_list: D053577:Interleukin-1 Receptor Accessory Protein