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De Novo Mutations of the Gene Encoding the Histone Acetyltransferase KAT6B Cause Genitopatellar Syndrome  Michael A. Simpson, Charu Deshpande, Dimitra.

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Presentation on theme: "De Novo Mutations of the Gene Encoding the Histone Acetyltransferase KAT6B Cause Genitopatellar Syndrome  Michael A. Simpson, Charu Deshpande, Dimitra."— Presentation transcript:

1 De Novo Mutations of the Gene Encoding the Histone Acetyltransferase KAT6B Cause Genitopatellar Syndrome  Michael A. Simpson, Charu Deshpande, Dimitra Dafou, Lisenka E.L.M. Vissers, Wesley J. Woollard, Susan E. Holder, Gabriele Gillessen-Kaesbach, Ronny Derks, Susan M. White, Ruthy Cohen-Snuijf, Sarina G. Kant, Lies H. Hoefsloot, Willie Reardon, Han G. Brunner, Ernie M.H.F. Bongers, Richard C. Trembath  The American Journal of Human Genetics  Volume 90, Issue 2, Pages (February 2012) DOI: /j.ajhg Copyright © 2012 The American Society of Human Genetics Terms and Conditions

2 Figure 1 Clinical and Genetic Findings of Individuals with Genitopatellar Syndrome (A) Facial features, including a coarse face, a broad bulbous nose, downturned corners of the mouth, and micrognathia (individuals GPS-02 [age 5 months], GPS-03 [age 3 months], and GPS-05 [age 5 months and 25 years, respectively]). (B) Flexion contractures of the knees with skin dimples suggestive of absent patella. (C) Scrotal hypoplasia and cryptorchidism. (D) Observed mutations with respect to the genomic organization of KAT6B and the domain structure of KAT6B. The American Journal of Human Genetics  , DOI: ( /j.ajhg ) Copyright © 2012 The American Society of Human Genetics Terms and Conditions

3 Figure 2 Evaluation of Mutant KAT6B Transcript Abundance and Detection of Mutant KAT6B Protein (A) Assessment of abundance of total KAT6B transcript in primary skin fibroblasts from individual GPS-02 and the average of two unrelated healthy controls (HDF). Error bars represent standard error of the mean of three independent experiments. (B) Detection of full length and truncated endogenous KAT6B in individual GPS-02 heterozygous for the KAT6B alteration p.Lys1258GlyfsX13. The American Journal of Human Genetics  , DOI: ( /j.ajhg ) Copyright © 2012 The American Society of Human Genetics Terms and Conditions

4 Figure 3 Effect of KAT6B Mutation p.Lys1258GlyfsX13 on H3 and H4 Acetylation Significant decrease of H3 and H4 acetylation in fibroblasts from individual GPS-02 compared to the average of two HDF (∗p < 0.05; t test). Error bars represent standard deviation of triplicate measurements. The American Journal of Human Genetics  , DOI: ( /j.ajhg ) Copyright © 2012 The American Society of Human Genetics Terms and Conditions

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