Autism in three patients with cystic or hyperechogenic kidneys and chromosome 17q12 deletion.
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.
Loirat
Chantal
C
Department of Pediatric Nephrology, Assistance Publique-Hôpitaux de Paris, Hôpital Robert Debré, Université Paris-Diderot, Paris, France. chantal.loirat@rdb.aphp.fr
Bellanné-Chantelot
Christine
C
Husson
Isabelle
I
Deschênes
Georges
G
Guigonis
Vincent
V
Chabane
Nadia
N
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
C496495:HNF1B protein, human; D018398:Homeodomain Proteins; C085473:LHX1 protein, human; D060850:LIM-Homeodomain Proteins; D014157:Transcription Factors; D051539:Hepatocyte Nuclear Factor 1-beta