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. Author manuscript; available in PMC: 2023 Jul 1.
Published in final edited form as: Am J Med Genet A. 2022 Apr 9;188(7):2198–2203. doi: 10.1002/ajmg.a.62747

Figure 1. An intronic variant in POGZ impacts splicing and causes WHSUS with CDH.

Figure 1.

A) Photograph of patient at 4 years 10 months of age shows a high forehead, bitemporal narrowing, sparse hair, sparse eyebrows with synophrys, a flat nasal root, large anteverted nares, a long philtrum, and a cupid’s bow appearance to her upper lip.

B) Exome sequencing demonstrated that the NM_015100.3:c.2546–20T>A variant in POGZ is present in the patient but not in either parent. C) Sequencing of RNA isolated from her fibroblasts demonstrates exon 18 skipping in 42% of reads and demonstrates low level retention of intron 17. * indicates approximate location of the c.2546–20T>A variant in intron 17.