@entity6806 mutations cause @entity75 with @entity302 , and @entity71 and stereotyped XXXX .

@entity1 @entity748 @entity1522 @entity410 @entity75 @entity2358 @entity3391 @entity6806 @entity71 @entity245 @entity72129 @entity739 @entity302 @entity717
OBJECTIVE: Recently, de novo mutations in @entity6806 have been identified in @entity1 with nonsyndromic @entity717 and @entity302 . Whole exome sequencing (WES) analysis of @entity1 with genetically unsolved @entity302 identified four @entity1 with @entity6806 mutations, allowing us to investigate the phenotypic spectrum of @entity6806 mutations. METHODS: Eighty-eight @entity1 with unclassified early onset @entity302 (EOEEs) with an age of onset <1  year were analyzed by WES. The effect of mutations on @entity3391 ( @entity3391 ) receptors was examined by mapping altered @entity1522 onto three-dimensional models. RESULTS: We identified four de novo missense @entity6806 mutations in 4 of 88 @entity1 with unclassified EOEEs. In these four @entity1 , initial symptoms appeared within 3  months of birth, including @entity71 movements in two @entity1 (2/4, 50%), and @entity410 in two @entity1 (2/4, 50%). @entity2358 , severe @entity245 , and @entity717 were recognized in all four @entity1 . In addition, @entity2358 resembling @entity748 and stereotypic hand movements were observed in two and three @entity1 , respectively. All the four @entity1 exhibited only nonspecific focal and @entity302 , and never showed suppression-burst or @entity739 during infancy. A de novo mosaic mutation ( @entity72129 ) with a mutant allele frequency of 16% (in DNA of blood leukocytes) was detected in one @entity1 . Three mutations were located in the transmembrane domain (3/4, 75%), and one in the extracellular loop near transmembrane helix 1. All the mutations were predicted to impair the function of the @entity3391 receptor. SIGNIFICANCE: Clinical features of de novo @entity6806 mutations include @entity2358 , @entity410 , and hand stereotypies, suggesting that @entity6806 mutations cause @entity75 resulting in @entity410 and @entity717 .
