Dose dependent expression of HDAC4 causes variable expressivity in a novel inherited case of brachydactyly mental retardation syndrome.
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Cites background from "Dose dependent expression of HDAC4 ..."
...2 have been reported in BMRS subjects (Williams et al. 2010; Morris et al. 2012)....
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...3 HDAC Brachydactyly-mental retardation syndrome (BDMR) 600430 Williams et al. (2010), Morris et al. (2012) EHMT1 79813 9q34....
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Cites background from "Dose dependent expression of HDAC4 ..."
...Dose dependent expression of HDAC4 causes variable expressivity in a novel inherited case of brachydactyly mental retardation syndrome....
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...In this condition, caused by haploinsufficiency of a histone deacetylase gene (HDAC4), patients have skeletal abnormalities, including brachycephaly and brachydactyly, as well as intellectual disability (128)....
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...For instance, decreased amounts of HDAC4 appear to upregulate the MEF2 gene in neurons, offering a possible explanation for the intellectual disability seen in the syndrome (102)....
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...F or p er so na l u se o nl y. GG15CH12-Bjornsson ARI 8 August 2014 12:35 DISORDERS ABOVE HISTONE TAILS TIP THE BALANCE TOWARD CLOSED CHROMATIN DISORDERS BELOW HISTONE TAILS TIP THE BALANCE TOWARD OPEN CHROMATIN Acetyl group binary system (0, 1) Methyl group quaternary system (0, 1, 2, 3) Open, active chromatin Acetyl group Methyl group Closed, inactive chromatin Methyl group H4 H4 H3 H3 H2A H2B HDAC4 KD M5 C HD AC 4 NS D1 EH MT 1 ML L2 EP 30 0 CR EB BP EP 30 0 CR EB BP KD M6 A EZ H2 ML L CLOSED OPEN CLOSED OPEN H4 tail BDMRKLFS K4 K9K9 or K14 K18 K23 K27 K36 K20 K16 K12 K8 K5 CJS WSS KS2 SS* WS* KS1 BDMR H3 tail RTS1,2RTS1,2 Era ser Era ser Era ser Era ser Hili ter NSD1 SS* Hili ter Hili ter Hili ter Hili ter Hili ter Hili ter Hili ter Hili ter Hi-li ter 276 Fahrner · Bjornsson A nn u....
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...HDAC4 is an eraser of the same marks deposited by CREBBP/EP300 (127), tilting the balance toward closed chromatin states....
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References
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Additional excerpts
...[Ravnan et al., 2006]....
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"Dose dependent expression of HDAC4 ..." refers background in this paper
...A previous study of simple deletions and mutations of HDAC4 showed approximately 50% expression in affected individuals [Williams et al., 2010]....
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...Brachydactyly mental retardation syndrome (BDMR, OMIM 600430) is a rare genetic disorder caused by aberrations of chromosomal region 2q37 and associated with mutation or deletion of histone deacetylase 4 (HDAC4) [Williams et al., 2010]....
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...%) is not typical of a heterozygous gene deletion; patients with BDMR, and deletions similar to that of patient 1 have not shown less than 50%expression [Williams et al., 2010; and data not shown]....
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..., 2006], with recent reports demonstrating mutations in theHDAC4 gene in cases with theBDMRphenotype [Williams et al., 2010]....
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...2qter [Aldred et al., 2004; Chaabouni et al., 2006], with recent reports demonstrating mutations in theHDAC4 gene in cases with theBDMRphenotype [Williams et al., 2010]....
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"Dose dependent expression of HDAC4 ..." refers background in this paper
...Individuals tend to have distinctive facies which may consist of low set ears, upslanting palpebral fissures, high arched eyebrows, smooth philtrum, thin upper lip vermilion, and underdeveloped or dysmorphic alae nasi and pinna; however, the most commonly associated clinical features of the disorder include developmental delay, behavioral issues, autism spectrum disorder, cardiac defects, obesity, and brachydactyly type E [Wilson et al., 1995; Aldred et al., 2004; Falk and Casas, 2007]....
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...…or dysmorphic alae nasi and pinna; however, the most commonly associated clinical features of the disorder include developmental delay, behavioral issues, autism spectrum disorder, cardiac defects, obesity, and brachydactyly type E [Wilson et al., 1995; Aldred et al., 2004; Falk and Casas, 2007]....
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