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. Author manuscript; available in PMC: 2020 Jan 10.
Published in final edited form as: Hum Mutat. 2019 Nov 14;41(1):150–168. doi: 10.1002/humu.23902

Figure 3: Xq22-PLP1 deletions size, extent and gene content.

Figure 3:

A) Alignment of all Xq22-PLP1 deletions known to date and magnification (green) of the narrowed down smallest region of overlap between EONDT deletions (EONDT-SRO) that is proposed to contribute to disease. Grey boxes indicate the SROs previously proposed by Yamamoto et al. (2014) to contribute to disease in females with large deletions. B) All partial PLP1 deletions known to date. C) GTEx heatmap showing expression levels (as Transcripts per Million, TPM) of genes in the EONDT-SRO in comparison to PLP1 in different parts of the brain. All of the EONDT-SRO genes appear to be expressed in the brain.

(F): female case. (M): male case. (M & F): family with male and female cases. EONDT-Like: some clinical features overlapping EONDT. Unclassified: unclassified phenotype. ?: clinical information not available. ‡Yamamoto et al., 2014, §Inoue et al., 2002, «Torisu et al., 2012, ¤Matsufuji et al., 2013. ¥Labonne et al., 2016. TPM: transcripts per million.