Linkage and exome analysis implicate multiple genes in non-syndromic intellectual disability in a large Swedish family.

ABSTRACT:

Background

Non-syndromic intellectual disability is genetically heterogeneous with dominant, recessive and complex forms of inheritance. We have performed detailed genetic studies in a large multi-generational Swedish family, including several members diagnosed with non-syndromic intellectual disability. Linkage analysis was performed on 22 family members, nine affected with mild to moderate intellectual disability and 13 unaffected family members.

Methods

Family members were analyzed with Affymetrix Genome-Wide Human SNP Array 6.0 and the genetic data was used to detect copy number variation and to perform genome wide linkage analysis with the SNP High Throughput Linkage analysis system and the Merlin software. For the exome sequencing, the samples were prepared using the S

SUBMITTER: Lindholm Carlstrom E 

PROVIDER: S-EPMC6833288 | biostudies-literature | 2019 Nov

REPOSITORIES: biostudies-literature