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ajmg_35356_sm_SupplFig1.tif374KeFigure 1: Portion of the sequencing electropherogram for Patient 1 and his parents showing the two novel heterozygous mutations. (A) The patient and his mother had a novel g.66G>C mutation. This sequence was normal in his father. (B) Sequence analysis of the RNU4ATAC gene showed a heterozygous mutation, g.124G>A in both the patient and his father. (C) 3' Stem-loop region of the U4atac snRNA, nucleotide conservation across species from Kent et al. [2002[. Mutation positions g.66G and g.124G are boxed in red.
ajmg_35356_sm_SupplFig2.tif147KeFigure 2: Part of the sequencing electropherogram showing the g.55G>A mutation identified in Patient 3 and her parents. The arrow indicates the site of mutation.

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