Recessive @entity5113 mutation associates with @entity2438 , @entity717 , @entity21 and XXXX .

@entity1 @entity5113 @entity70688 @entity2438 @entity910 @entity70689 @entity302 @entity74 @entity21 @entity717
BACKGROUND: Various @entity74 cause @entity2438 associated with @entity717 and @entity302 . Here, we set out to identify the @entity74 in a consanguineous Omani family with three affected @entity1 in whom mutations in known candidate genes had been excluded beforehand. METHODS: For mutation screening, we combined autozygosity mapping and whole exome sequencing. Segregation of potential disease variants with the phenotype was verified by Sanger sequencing. A splice-site mutation was confirmed and quantified by qPCR. RESULTS: We found an autosomal recessive splice acceptor mutation in @entity5113 ( @entity70688 , @entity70689 ) in all affected individuals, which led to exon skipping, and reduced the normal full-length mRNA copy number in the @entity1 to 5% of the wild-type level. Besides @entity717 and @entity2438 , two of three affected siblings suffered from severe @entity302 . All @entity1 exhibited @entity910 of the limbs coinciding with symmetric T2 hyperintensities of the basal ganglia on cranial MRI. CONCLUSIONS: A recent report has shown dominant @entity5113 mutations to occur de novo in @entity1 with @entity717 . Here, we demonstrate that a @entity5113 -associated disorder can also be inherited as an autosomal recessive trait with heterozygous individuals being entirely healthy. Our findings expand the clinical and genetic spectrum of @entity5113 mutations to comprise @entity302 and @entity21 .
