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PHF21A Related Disorder: Description of a New Case.
Butera A, Nicotera AG, Di Rosa G, Musumeci SA, Vitello GA, Musumeci A, Vinci M, Gloria A, Federico C, Saccone S, Calì F. Butera A, et al. Int J Mol Sci. 2022 Dec 17;23(24):16130. doi: 10.3390/ijms232416130. Int J Mol Sci. 2022. PMID: 36555772 Free PMC article.
BHC80 is mainly expressed in the human fetal brain and skeletal muscle and acts as a modulator of several neuronal genes during embryogenesis. Data from literature relates PHF21A variants with Potocki-Shaffer Syndrome (PSS), a contiguous gene deletion disorder caused by th …
BHC80 is mainly expressed in the human fetal brain and skeletal muscle and acts as a modulator of several neuronal genes during embryogenesi …
PHF21A expression as a biomarker of hepatocellular carcinoma progression and prognosis.
Huang JQ, Ji LC, Jing QA, He YC, Ma YY, Tong XM. Huang JQ, et al. Neoplasma. 2022 Dec;69(6):1349-1358. doi: 10.4149/neo_2022_220807N806. Epub 2022 Oct 27. Neoplasma. 2022. PMID: 36305691
Kaplan-Meier analysis demonstrated that low PHF21A expression was associated with a poor prognosis, and Cox regression analysis showed that PHF21A was an independent predictor of prognosis. ...Finally, in vitro experiments confirmed the low expression of PHF21A …
Kaplan-Meier analysis demonstrated that low PHF21A expression was associated with a poor prognosis, and Cox regression analysis showe …
The PHF21A neurodevelopmental disorder: an evaluation of clinical data from 13 patients.
Poole RL, Bijlsma EK, Houge G, Jones G, Mikštienė V, Preikšaitienė E, Thompson L, Tatton-Brown K. Poole RL, et al. Clin Dysmorphol. 2023 Apr 1;32(2):49-54. doi: 10.1097/MCD.0000000000000455. Epub 2023 Feb 21. Clin Dysmorphol. 2023. PMID: 36876344
Potocki-Shaffer syndrome (PSS) is a rare neurodevelopmental disorder caused by deletions involving the 11p11.2-p12 region, encompassing the plant homeodomain finger protein 21A (PHF21A) gene. PHF21A has an important role in epigenetic regulation and PHF21A va …
Potocki-Shaffer syndrome (PSS) is a rare neurodevelopmental disorder caused by deletions involving the 11p11.2-p12 region, encompassing the …
De novo variants in PHF21A cause intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures: A case report and literature review.
Chen H, Chen Y, Wu H, Qiu X, Yu X, Wang R, Zhong J, Peng J. Chen H, et al. Seizure. 2023 Oct;111:138-146. doi: 10.1016/j.seizure.2023.08.009. Epub 2023 Aug 18. Seizure. 2023. PMID: 37633153 Free article. Review.
The patient whose case we report here had a novel PHF21A gene variant (p.Gln97fs*20), which caused neurodevelopmental delay, macrocephaly, and IESS. ...The most common types of variants are frameshift variants, and the variant p.Arg580* in PHF21A is located at a mut …
The patient whose case we report here had a novel PHF21A gene variant (p.Gln97fs*20), which caused neurodevelopmental delay, macrocep …
Asynchronous microexon splicing of LSD1 and PHF21A during neurodevelopment.
Nagai M, Porter RS, Hughes E, Saunders TL, Iwase S. Nagai M, et al. bioRxiv [Preprint]. 2024 Mar 21:2024.03.21.586181. doi: 10.1101/2024.03.21.586181. bioRxiv. 2024. Update in: J Biol Chem. 2024 Nov;300(11):107881. doi: 10.1016/j.jbc.2024.107881. PMID: 38562691 Free PMC article. Updated. Preprint.
The interaction with the neuron-specific components, however, did not require the PHF21A microexon, indicating that the neuronal proteomic milieu, rather than the microexon-encoded PHF21A segment, is responsible for neuron-specific complex formation. These results i …
The interaction with the neuron-specific components, however, did not require the PHF21A microexon, indicating that the neuronal prot …
CircRNA-Phf21a_0002 promotes pyroptosis to aggravate hepatic ischemia/ reperfusion injury by sponging let-7b-5p.
Jiang P, Li X, Shen Y, Luo L, Wu B, Teng D, Wang J, Muhammad I, Xu Q, Li S, Zhang B, Cai J. Jiang P, et al. Heliyon. 2024 Jul 15;10(16):e34385. doi: 10.1016/j.heliyon.2024.e34385. eCollection 2024 Aug 30. Heliyon. 2024. PMID: 39262995 Free PMC article.
Next, we investigated the underlying mechanism and found that circRNA-Phf21a_0002 enabled the expression of Bach1 through sponging of let-7b-5p. The aggravation of pyroptosis via overexpression of circRNA-Phf21a_0002 was reversed by let-7b-5p mimics in hypoxia/reoxy …
Next, we investigated the underlying mechanism and found that circRNA-Phf21a_0002 enabled the expression of Bach1 through sponging of …
Neuronal splicing of the unmethylated histone H3K4 reader, PHF21A, prevents excessive synaptogenesis.
Nagai M, Porter RS, Miyasato M, Wang A, Gavilan CM, Hughes ED, Wu MC, Saunders TL, Iwase S. Nagai M, et al. J Biol Chem. 2024 Nov;300(11):107881. doi: 10.1016/j.jbc.2024.107881. Epub 2024 Oct 11. J Biol Chem. 2024. PMID: 39395799 Free PMC article.
The interaction with the neuron-specific components, however, did not require the PHF21A microexon, indicating that the neuronal proteomic milieu, rather than the microexon-encoded PHF21A segment, is responsible for neuron-specific complex formation. Finally, by usi …
The interaction with the neuron-specific components, however, did not require the PHF21A microexon, indicating that the neuronal prot …
Disruption of PHF21A causes syndromic intellectual disability with craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems including autism.
Kim HG, Rosenfeld JA, Scott DA, Bénédicte G, Labonne JD, Brown J, McGuire M, Mahida S, Naidu S, Gutierrez J, Lesca G, des Portes V, Bruel AL, Sorlin A, Xia F, Capri Y, Muller E, McKnight D, Torti E, Rüschendorf F, Hummel O, Islam Z, Kolatkar PR, Layman LC, Ryu D, Kong IK, Madan-Khetarpal S, Kim CH. Kim HG, et al. Mol Autism. 2019 Oct 22;10:35. doi: 10.1186/s13229-019-0286-0. eCollection 2019. Mol Autism. 2019. PMID: 31649809 Free PMC article.
In addition, three patients with de novo truncating mutations in PHF21A were reported recently. Here, we analyze genomic data from seven unrelated individuals with mutations in PHF21A and provide detailed clinical descriptions, further expanding the phenotype associ …
In addition, three patients with de novo truncating mutations in PHF21A were reported recently. Here, we analyze genomic data from se …
A neuron-specific microexon ablates the novel DNA-binding function of a histone H3K4me0 reader PHF21A.
Porter RS, Nagai M, An S, Gavilan MC, Murata-Nakamura Y, Bonefas KM, Zhou B, Dionne O, Manuel JM, St-Germain J, Browning L, Laurent B, Cho US, Iwase S. Porter RS, et al. bioRxiv [Preprint]. 2023 Oct 21:2023.10.20.563357. doi: 10.1101/2023.10.20.563357. bioRxiv. 2023. Update in: Cell Rep. 2025 Jan 28;44(1):115213. doi: 10.1016/j.celrep.2024.115213. PMID: 37904995 Free PMC article. Updated. Preprint.
Of the 14 chromatin regulators, two are integral components of a histone H3K4 demethylase complex; the catalytic subunit LSD1 and an H3K4me0-reader protein PHF21A adopt neuron-specific forms. We found that canonical PHF21A (PHF21A-c) binds to DNA by AT-hook m …
Of the 14 chromatin regulators, two are integral components of a histone H3K4 demethylase complex; the catalytic subunit LSD1 and an H3K4me0 …
New Insights into Potocki-Shaffer Syndrome: Report of Two Novel Cases and Literature Review.
Trajkova S, Di Gregorio E, Ferrero GB, Carli D, Pavinato L, Delplancq G, Kuentz P, Brusco A. Trajkova S, et al. Brain Sci. 2020 Oct 28;10(11):788. doi: 10.3390/brainsci10110788. Brain Sci. 2020. PMID: 33126574 Free PMC article. Review.
We found 23 full PSS cases (ALX4, EXT2, and PHF21A), 14 cases with EXT2-ALX4, and three with PHF21A only. Among the latter, we describe a novel male child showing developmental delay, cafe-au-lait spots, liner postnatal overgrowth and West-like epileptic encephalopa …
We found 23 full PSS cases (ALX4, EXT2, and PHF21A), 14 cases with EXT2-ALX4, and three with PHF21A only. Among the latter, we …
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