title: Autism in three patients with cystic or hyperechogenic kidneys and chromosome 17q12 deletion.
abstract: BACKGROUND
  We report autism in 3 out of 53 children with cystic or hyperechogenic kidneys and heterozygous 17q12 region deletion encompassing hepatocyte nuclear factor-1beta (HNF1B).
  
  
  RESULTS
  They presented mental retardation, social interaction impairments, verbal and non-verbal communication deficits and stereotyped behaviours. Deletion size and location of breakpoints were similar to those reported in patients with renal disease/diabetes only.
  
  
  CONCLUSIONS
  Reciprocal genomic rearrangements of the 17q12 region, reported in patients with mental retardation and epilepsy, could also be involved in autism. Nephrologists should be aware of the possibility of autism in patients with 17q12 deletion including HNF1B locus.
authors.affiliation: Department of Pediatric Nephrology, Assistance Publique-Hôpitaux de Paris, Hôpital Robert Debré, Université Paris-Diderot, Paris, France. chantal.loirat@rdb.aphp.fr
authors.forename: Chantal
authors.initials: C
authors.lastname: Loirat
authors.forename: Christine
authors.initials: C
authors.lastname: Bellanné-Chantelot
authors.forename: Isabelle
authors.initials: I
authors.lastname: Husson
authors.forename: Georges
authors.initials: G
authors.lastname: Deschênes
authors.forename: Vincent
authors.initials: V
authors.lastname: Guigonis
authors.forename: Nadia
authors.initials: N
authors.lastname: Chabane
mesh_terms: D001321:Autistic Disorder / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D002886:Chromosomes, Human, Pair 17; D051539:Hepatocyte Nuclear Factor 1-beta / Q000235:genetics*; D018398:Homeodomain Proteins / Q000235:genetics; D006801:Humans; D052177:Kidney Diseases, Cystic / Q000000981:diagnostic imaging / Q000235:genetics*; D060850:LIM-Homeodomain Proteins; D008297:Male; D014157:Transcription Factors; D014463:Ultrasonography
chemical_list: C496495:HNF1B protein, human; D018398:Homeodomain Proteins; C085473:LHX1 protein, human; D060850:LIM-Homeodomain Proteins; D014157:Transcription Factors; D051539:Hepatocyte Nuclear Factor 1-beta