Broadening the phenotypic spectrum of pathogenic @entity71766 variants: two cases with XXXX , variable @entity851 and distinct facial features.

@entity1 @entity71768 @entity851 @entity71766 @entity751 @entity71765 @entity717 @entity71767
UNASSIGNED: In 2012 Alazami et al. described a novel syndromic cause of @entity71765 with distinct facial features and severe @entity717 . A homozygous frameshift mutation in @entity71766 , a chaperone of the noncoding RNA 7SK, was discovered in @entity1 from a single consanguineous Saudi family. To date, only one additional @entity1 has recently been described. To further delineate the phenotype associated with @entity71766 mutations, we report two additional cases originating from the Netherlands and Saudi Arabia. The @entity1 presented with @entity717 , distinct facial features and variable @entity851 . We describe their clinical features and compare them with the previously reported @entity1 . Both cases were identified by diagnostic whole-exome sequencing, which detected two homozygous pathogenic @entity71766 variants: @entity71767 in the Dutch case and @entity71768 in the Saudi Arabian case. Both variants are leading to frameshifts with introduction of premature stop codons, suggesting that loss of function is likely the disease mechanism. This study is an independent @entity751 due to @entity71766 depletion. Our cases broaden the associated clinical features of the syndrome and contribute to the delineation of the phenotypic spectrum of @entity71766 mutations.Journal of @entity1 Genetics advance online publication, 26 November 2015; doi:10.1038/jhg.2015.134.
