Article
Expanding the molecular basis and phenotypic spectrum of X-linked Joubert syndrome associated with OFD1 mutations.
European journal of human genetics : EJHG - 1 Jul 2012
Field Michael, Scheffer Ingrid E, Gill Deepak, Wilson Meredith, Christie Louise, Shaw Marie, Gardner Alison, Glubb Georgie, Hobson Lynne, Corbett Mark, Friend Kathryn, Willis-Owen Saffron, Gecz Jozef
Abstract excerpt
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...
Topics
- Cerebellar Diseases
- Child
- Child, Preschool
- Chromosomes, Human, X
- Exons
- Genetic Diseases, X-Linked
- Genetic Linkage
- Humans
- Infant
- Intellectual Disability
- Male
- Mutation
- Orofaciodigital Syndromes
- Pedigree