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1.
Figure 1

Figure 1. From: Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients.

a Patient 16 (negative for CREBBP mutations); b patient 17 (c.3715_3716delAA in CREBBP gene); c patient 46 (c.4627G>T in CREBBP gene). The typical RSTS facial features are visible in the three patients.

Angela Bentivegna, et al. BMC Med Genet. 2006;7:77-77.
2.
Figure 6

Figure 6. From: Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients.

Conservation of amino acids that are predicted by ClustalW [20] to change by three missense mutations identified in this study. a p.Arg14Gly of pt 23; b p.Tyr1482Cys of pt 15; c p.Asp1543Tyr of pt 46. The changed residues are conserved in man (GeneBank: Q92793), in mouse (GeneBank: P45481), in Drosophila melanogaster (DROM3A), in Caenorabditis elegans (CEL116) and in P300 protein.

Angela Bentivegna, et al. BMC Med Genet. 2006;7:77-77.
3.
Figure 3

Figure 3. From: Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients.

Mapping of the five deletions on the CREBBP genomic region. Top: genomic organization of CREBBP with exons represented by black boxes and introns as connecting lines. The intragenic polymorphic loci are positioned across the gene. Middle: BAC clones used for preliminary FISH analysis, indicated by bars. Bottom: deletions are shown by thick lines; deletion ends containing the breakpoints, are represented by dashed lines.

Angela Bentivegna, et al. BMC Med Genet. 2006;7:77-77.
4.
Figure 7

Figure 7. From: Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients.

Nuclear Localization signals (NLSs) predicted by PSORTII [21] analysis. a wild-type CREBBP with three putative NLSs (two monopartite and one bipartite) evidenced by squares: the affected Arg14 is marked in red; b Mutated CREBBP of patient 23 with Arg14Gly substitution with only one predicted NLS. The bottom panels show the cellular localization predictions of wt and mutated proteins.

Angela Bentivegna, et al. BMC Med Genet. 2006;7:77-77.
5.
Figure 4

Figure 4. From: Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients.

Location of the 14 causative CREBBP mutations found in this study. Only exons are drawn to scale. The histone acetyl transferase domain and the plant homeodomain (PHD)-type zinc finger are indicated according to Kalkhoven et al. (2003), other domains according to Giles et al. (1997). Truncating mutations are in light-grey, missense mutations in dark-grey and the two previously reported mutations in italics.

Angela Bentivegna, et al. BMC Med Genet. 2006;7:77-77.
6.
Figure 5

Figure 5. From: Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients.

RT-PCR and bioinformatic analysis of the splice site mutation (c.4728+1G>A) of pt 20. a RT-PCR of the CREBBP fragment including Ex 28 and 29 evidenced an additional smaller fragment (NC: normal control). b bioinformatic analysis with Splice Site Prediction [18] and the SpliceView [19]: the physiological donor site is in bold; the de-novo donor site activated is underscored. c schematic diagram of the misplicing predicted to occur in this patient with the cryptic donor site underscored. On the left electropherogram of the normal donor site; on the right the electropherogram attesting activation of the cryptic donor site.

Angela Bentivegna, et al. BMC Med Genet. 2006;7:77-77.
7.
Figure 2

Figure 2. From: Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients.

CREBBP deletion in patient 30 detected through: a genotyping of intragenic polymorphic markers (MS4, MS2, D16S3065 and SNP c.5454G>A) in the available family members allowing haplotype reconstruction; b Double color FISH analysis showing a signal of highly reduced intensity on one chromosome 16p for BAC 1072J2, specific for CREBBP (in red). The residual hybridization is accounted for by the size of the genomic clone higher than the deleted region. The control subtelomeric 16q BAC 566K11 shows a comparable signal on both chromosomes (in green).

Angela Bentivegna, et al. BMC Med Genet. 2006;7:77-77.

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