Autism in three patients with cystic or hyperechogenic kidneys and chromosome 17q12 deletion

作者：Loirat Chantal^*; Bellanne Chantelot Christine; Husson Isabelle; Deschenes Georges; Guigonis Vincent; Chabane Nadia

来源：Nephrology Dialysis Transplantation, 2010, 25(10): 3430-3433.

DOI：10.1093/ndt/gfq380

• 17q12 deletion
• autism
• cystic kidneys
• HNF1B deletion
• mental retardation

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.

• 出版日期2010-10