A Nonsense Mutation in the Hedgehog Receptor XXXX Associated With Pituitary Stalk Interruption Syndrome.

@entity1 @entity4053 @entity16054 @entity10146 @entity72467 @entity601 @entity4851 @entity72466 @entity72468 @entity1448
BACKGROUND: Pituitary stalk interruption syndrome (PSIS) and @entity10146 ( @entity10146 ) are @entity601 . Rare mutations in the sonic hedgehog ( @entity4851 ) signaling gene @entity72466 have recently been reported in @entity1 with @entity10146 . OBJECTIVE: To report a unique case of PSIS with a maternally inherited nonsense mutation in the @entity4851 signaling protein @entity72466 . METHOD: We performed exome sequencing on a case of PSIS. Control databases (1000 Genomes, dbSNP, Exome Variant Server, ExAC Browser) and an ancestry-matched control panel were screened upon identification of @entity72466 mutation. RESULTS: We identified a novel heterozygous nonsense mutation ( @entity72467 , @entity72468 ) in a case of PSIS without @entity10146 who presented with @entity4053 and @entity1448 associated with GH, TSH, and @entity16054 . This mutation was absent in all control databases and from 400 healthy ancestry-matched control subjects. The mutation was inherited from the @entity1 's mother, who was operated on in childhood for strabismus. The absence of this variant in control samples suggests that it is likely to be responsible for the phenotype. CONCLUSION: We report for the first time a mutation in the @entity72466 gene associated with PSIS.
