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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.

SUBMITTER: Field M 

PROVIDER: S-EPMC3376274 | biostudies-literature | 2012 Jul

REPOSITORIES: biostudies-literature

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

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]

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