Contribution of rare and common variants to intellectual disability in a sub-isolate of Northern Finland.
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ABSTRACT:
SUBMITTER: Kurki MI
PROVIDER: S-EPMC6345990 | biostudies-literature | 2019 Jan
REPOSITORIES: biostudies-literature
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Contribution of rare and common variants to intellectual disability in a sub-isolate of Northern Finland.
Kurki Mitja I MI Saarentaus Elmo E Pietiläinen Olli O Gormley Padhraig P Lal Dennis D Kerminen Sini S Torniainen-Holm Minna M Hämäläinen Eija E Rahikkala Elisa E Keski-Filppula Riikka R Rauhala Merja M Korpi-Heikkilä Satu S Komulainen-Ebrahim Jonna J Helander Heli H Vieira Päivi P Männikkö Minna M Peltonen Markku M Havulinna Aki S AS Salomaa Veikko V Pirinen Matti M Suvisaari Jaana J Moilanen Jukka S JS Körkkö Jarmo J Kuismin Outi O Daly Mark J MJ Palotie Aarno A
Nature communications 20190124 1
The contribution of de novo variants in severe intellectual disability (ID) has been extensively studied whereas the genetics of mild ID has been less characterized. To elucidate the genetics of milder ID we studied 442 ID patients enriched for mild ID (>50%) from a population isolate of Finland. Using exome sequencing, we show that rare damaging variants in known ID genes are observed significantly more often in severe (27%) than in mild ID (13%) patients. We further observe a significant enric ...[more]
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