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Fig. 3 | BMC Medical Genomics

Fig. 3

From: De novo variation in EP300 gene cause Rubinstein-Taybi syndrome 2 in a Chinese family with severe early-onset high myopia

Fig. 3

Sequence analysis and identification of the novel mutations of EP300 in the affected family with autosomal-dominant RSTS. (a) Pedigree of the family. The filled black symbols represent the affected members and the arrow denotes the proband. (b) Sequence chromatograms of identified mutations. (c) The homology of amino acid sequences between human EP300 and other species. The amino acid at position 1239 (Leucine, L1239) is highly conserved among species. (d) Relative gene expression levels of EP300 in the affected family with autosomal-dominant RSTS:showing relative gene expression levels of EP300 of II-1(0.49) is lower than I-1(1.04),I-2(0.69) and II-2(0.97) and P value (II-1 : I-1) = 0.0011, P value (II-1 : I-2) = 0.0043, P value (II-1 : II-2) = 0.0036

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BMC Medical Genomics

ISSN: 1755-8794

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