Donor splice-site mutation in CUL4B is likely cause of X-linked intellectual disability.

ABSTRACT: X-linked intellectual disability is the most common form of cognitive disability in males. Syndromic intellectual disability encompasses cognitive deficits with other medical and behavioral manifestations. Recently, a large family with a novel form of syndromic X-linked intellectual disability was characterized. Eight of 24 members of the family are male and had cognitive dysfunction, short stature, aphasia, skeletal abnormalities, and minor anomalies. To identify the causative gene(s), we performed exome sequencing in three affected boys, both parents, and an unaffected sister. We identified a haplotype consisting of eight variants located in cis within the linkage region that segregated with affected members in the family. Of these variants, two were novel. The first was at the splice-do

SUBMITTER: Londin ER 

PROVIDER: S-EPMC4404493 | biostudies-literature | 2014 Sep

REPOSITORIES: biostudies-literature