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.

CONCLUSION:

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: Chantal Loirat, Christine Bellanné-Chantelot, Isabelle Husson, Georges Deschênes, Vincent Guigonis, Nadia Chabane
• Journal: Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association (Nephrol Dial Transplant) Vol. 25 Issue 10 Pg. 3430-3 (Oct 2010) ISSN: 1460-2385 [Electronic] England
• PMID: 20587423 (Publication Type: Case Reports, Journal Article)

Chemical References

• HNF1B protein, human
• Homeodomain Proteins
• LHX1 protein, human
• LIM-Homeodomain Proteins
• Transcription Factors
• Hepatocyte Nuclear Factor 1-beta

Topics

• Autistic Disorder (genetics)
• Child
• Child, Preschool
• Chromosome Deletion
• Chromosomes, Human, Pair 17
• Hepatocyte Nuclear Factor 1-beta (genetics)
• Homeodomain Proteins (genetics)
• Humans
• Kidney Diseases, Cystic (diagnostic imaging, genetics)
• LIM-Homeodomain Proteins
• Male
• Transcription Factors
• Ultrasonography