Ontology highlight
ABSTRACT:
SUBMITTER: Field M
PROVIDER: S-EPMC3376274 | biostudies-literature | 2012 Jul
REPOSITORIES: biostudies-literature
Field Michael M Scheffer Ingrid E IE Gill Deepak D Wilson Meredith M Christie Louise L Shaw Marie M Gardner Alison A Glubb Georgie G Hobson Lynne L Corbett Mark M Friend Kathryn K Willis-Owen Saffron S Gecz Jozef J
European journal of human genetics : EJHG 20120222 7
Using a combination of linkage mapping and massively parallel sequencing of the X-chromosome exome, we identified an 18-bp deletion in exon 8 of the oral-facial-digital syndrome type 1 (OFD1) gene in a family with X-linked Joubert syndrome (JBTS10). The deletion results in an in-frame deletion of six amino acids. New features not noted in the two previously reported cases of X-linked Joubert syndrome include the presence of polycystic kidney disease, polymicrogyria and hydrocephalus. Our study f ...[more]