Targeted Next-Generation Sequencing in Patients with Suggestive X-Linked Intellectual Disability.

ABSTRACT: X-linked intellectual disability (XLID) is known to contribute up to 10% of intellectual disability (ID) in males and could explain the increased ratio of affected males observed in patients with ID. Over the past decade, next-generation sequencing has clearly stimulated the gene discovery process and has become part of the diagnostic procedure. We have performed targeted next-generation sequencing of 82 XLID genes on 61 non-related male patients with suggestive non-syndromic XLID. These patients were initially referred to the molecular genetics laboratory to exclude Fragile X Syndrome. The cohort includes 47 male patients with suggestive X-linked family history of ID meaning that they had half-brothers or maternal cousins or uncles affected; and 14 male patients with ID and affected broth

SUBMITTER: Ibarluzea N 

PROVIDER: S-EPMC7017351 | biostudies-literature | 2020 Jan

REPOSITORIES: biostudies-literature