X-exome sequencing in Finnish families with Intellectual Disability - four novel mutations and two novel syndromic phenotypes
Philips, Anju K × Sirén, Auli Avela, Kristiina Somer, Mirja Peippo, Maarit Ahvenainen, Minna Doagu, Fatma Arvio, Maria Kääriäinen, Helena Van Esch, Hilde Froyen, Guy Haas, Stefan A Hu, Hao Kalscheuer, Vera M Järvelä, Irma #
Orphanet Journal of Rare Diseases vol:9 issue:1 pages:49-49
X-linked intellectual disability (XLID) is a group of genetically heterogeneous disorders characterized by substantial impairment in cognitive abilities, social and behavioral adaptive skills. Next generation sequencing technologies have become a powerful approach for identifying molecular gene mutations relevant for diagnosis.Methods & objectives: Enrichment of X-chromosome specific exons and massively parallel sequencing was performed for identifying the causative mutations in 14 Finnish families, each of them having several males affected with intellectual disability of unknown cause.