Dataset Information


Expanding the molecular basis and phenotypic spectrum of X-linked Joubert syndrome associated with OFD1 mutations.

ABSTRACT: 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 further underlines the power of genetic mapping combined with massively parallel sequencing as a powerful tool for novel disease gene and mutation discovery.


PROVIDER: S-EPMC3376274 | BioStudies | 2012-01-01

REPOSITORIES: biostudies

Similar Datasets

2018-01-01 | S-EPMC6276521 | BioStudies
2017-01-01 | S-EPMC5364566 | BioStudies
2019-01-01 | S-EPMC6732318 | BioStudies
2013-01-01 | S-EPMC5497464 | BioStudies
2009-01-01 | S-EPMC2756557 | BioStudies
2010-01-01 | S-EPMC4048012 | BioStudies
2016-01-01 | S-EPMC4760119 | BioStudies
2012-01-01 | S-EPMC3406759 | BioStudies
2015-01-01 | S-EPMC4635607 | BioStudies
2010-01-01 | S-EPMC2841064 | BioStudies