Lea Urpa, Mitja I Kurki, Elisa Rahikkala, Eija Hämäläinen, Veikko Salomaa, Jaana Suvisaari, Riikka Keski-Filppula, Merja Rauhala, Satu Korpi-Heikkilä, Jonna Komulainen-Ebrahim, Heli Helander, Päivi Vieira, Johanna Uusimaa, Jukka S Moilanen, Jarmo Körkkö, Tarjinder Singh, Outi Kuismin, Olli Pietiläinen, Aarno Palotie, Mark J Daly
Intellectual disability (ID) is a common disorder, yet there is a wide spectrum of impairment from mild to profoundly affected individuals. Mild ID is seen as the low extreme of the general distribution of intelligence, while severe ID is often seen as a monogenic disorder caused by rare, pathogenic, highly penetrant variants. To investigate the genetic factors influencing mild and severe ID, we evaluated rare and common variation in the Northern Finland Intellectual Disability cohort (n = 1096 ID patients), a cohort with a high percentage of mild ID (n = 550) and from a population bottleneck enriched in rare, damaging variation...
March 11, 2024: European Journal of Human Genetics: EJHG