Figure 2 | European Journal of Human Genetics

Figure 2

From: PUF60 variants cause a syndrome of ID, short stature, microcephaly, coloboma, craniofacial, cardiac, renal and spinal features

Figure 2

A de novo variant in PUF60 results in aberrant splicing at exon 8 splice-acceptor site. (a) The heterozygous, de novo PUF60 variant, c.604−2A>C was identified in patient II:1 through trio-based exome sequencing of family 3781. (b) Sequencing of skin-derived cDNA from patient II:1 (family 3781) showed normal splicing of exons 7 and 8 from one allele (top) and aberrant splicing with inclusion of the complete intron 7 from the mutant allele (bottom). Black arrows show the position of the oligonucleotide primers used for cDNA amplification and sequencing. The genomic context of the PUF60 gene is shown, with exons indicated as black boxes. The location of the PUF60 c.604−2A>C variant in intron 7 is indicated by a dotted red arrow, with the Sanger sequence trace from patient II:1 (family 3781) presented underneath. Variant nomenclature, exon numbering and the PUF60 messenger RNA sequence are based on sequence accession numbers NM_078480.2 (mRNA) and NPs_510965.1 (protein) and GenBank accession number NG_033879.1.

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