• Exome sequencing reveals predominantly de novo variants in disorders with intellectual disability in the founder population of Finland

    1 month ago - By Springer

    Abstract
    The genetics of autosomal recessive intellectual disability has mainly been studied in consanguineous families, however, founder populations may also be of interest to study intellectual disability and the contribution of ARID. Here, we used a genotype-driven approach to study the genetic landscape of ID in the founder population of Finland. A total of 39 families with syndromic and non-syndromic ID were analyzed using exome sequencing, which revealed a variant in a known ID gene in 27 families. Notably, 75% of these variants in known ID genes were de novo or suspected de novo and...
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