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.
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: Daniel Moreno-De-Luca; Jennifer G Mulle; Erin B Kaminsky; Stephan J Sanders; Scott M Myers; Margaret P Adam; Amy T Pakula; Nancy J Eisenhauer; Kim Uhas; LuAnn Weik; Lisa Guy; Melanie E Care; Chantal F Morel; Charlotte Boni; Bonnie Anne Salbert; Ashadeep Chandrareddy; Laurie A Demmer; Eva W C Chow; Urvashi Surti; Swaroop Aradhya; Diane L Pickering; Denae M Golden; Warren G Sanger; Emily Aston; Arthur R Brothman; Troy J Gliem; Erik C Thorland; Todd Ackley; Ram Iyer; Shuwen Huang; John C Barber; John A Crolla; Stephen T Warren; Christa L Martin; David H Ledbetter Journal: Am J Hum Genet Date: 2010-11-04 Impact factor: 11.025
Authors: Jennifer L Cohen; Terrence B Crowley; Daniel E McGinn; Carey McDougall; Marta Unolt; Michele P Lambert; Beverly S Emanuel; Elaine H Zackai; Donna M McDonald-McGinn Journal: Am J Med Genet A Date: 2018-09-23 Impact factor: 2.802
Authors: Andres Moreno-De-Luca; Scott M Myers; Thomas D Challman; Daniel Moreno-De-Luca; David W Evans; David H Ledbetter Journal: Lancet Neurol Date: 2013-03-18 Impact factor: 44.182