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Expanding the genotypic spectrum of TXNL4A variants in Burn-McKeown syndrome.
Wood KA, Ellingford JM, Thomas HB; Genomics UK Research Consortium; Douzgou S, Beaman GM, Hobson E, Prescott K, O'Keefe RT, Newman WG. Wood KA, et al. Clin Genet. 2022 Feb;101(2):255-259. doi: 10.1111/cge.14082. Epub 2021 Nov 5. Clin Genet. 2022. PMID: 34713892
The developmental disorder Burn-McKeown Syndrome (BMKS) is characterised by choanal atresia and specific craniofacial features. ...The other has an intronic TXNL4A splice site variant (c.258-3C>G) and a type 1 delta34 promoter deletion. We show the …
The developmental disorder Burn-McKeown Syndrome (BMKS) is characterised by choanal atresia and specific craniofacial f …
Identification of causative variants in TXNL4A in Burn-McKeown syndrome and isolated choanal atresia.
Goos JAC, Swagemakers SMA, Twigg SRF, van Dooren MF, Hoogeboom AJM, Beetz C, Günther S, Magielsen FJ, Ockeloen CW, A Ramos-Arroyo M, Pfundt R, Yntema HG, van der Spek PJ, Stanier P, Wieczorek D, Wilkie AOM, van den Ouweland AMW, Mathijssen IMJ, Hurst JA. Goos JAC, et al. Eur J Hum Genet. 2017 Oct;25(10):1126-1133. doi: 10.1038/ejhg.2017.107. Epub 2017 Jul 26. Eur J Hum Genet. 2017. PMID: 28905882 Free PMC article.
Burn-McKeown syndrome (BMKS) is a rare syndrome characterized by choanal atresia, prominent ears, abnormalities of the outer third of the lower eyelid, structural cardiac abnormalities, conductive and sensorineural hearing loss, and cleft lip. Recently, causa …
Burn-McKeown syndrome (BMKS) is a rare syndrome characterized by choanal atresia, prominent ears, abnormalities of the …
Compound heterozygosity of low-frequency promoter deletions and rare loss-of-function mutations in TXNL4A causes Burn-McKeown syndrome.
Wieczorek D, Newman WG, Wieland T, Berulava T, Kaffe M, Falkenstein D, Beetz C, Graf E, Schwarzmayr T, Douzgou S, Clayton-Smith J, Daly SB, Williams SG, Bhaskar SS, Urquhart JE, Anderson B, O'Sullivan J, Boute O, Gundlach J, Czeschik JC, van Essen AJ, Hazan F, Park S, Hing A, Kuechler A, Lohmann DR, Ludwig KU, Mangold E, Steenpaß L, Zeschnigk M, Lemke JR, Lourenco CM, Hehr U, Prott EC, Waldenberger M, Böhmer AC, Horsthemke B, O'Keefe RT, Meitinger T, Burn J, Lüdecke HJ, Strom TM. Wieczorek D, et al. Am J Hum Genet. 2014 Dec 4;95(6):698-707. doi: 10.1016/j.ajhg.2014.10.014. Epub 2014 Nov 26. Am J Hum Genet. 2014. PMID: 25434003 Free PMC article.
The U5 spliceosomal complex of eight highly conserved proteins is critical for pre-mRNA splicing. We identified biallelic mutations in TXNL4A, a member of this complex, in individuals with Burn-McKeown syndrome (BMKS). This rare condition is characteri …
The U5 spliceosomal complex of eight highly conserved proteins is critical for pre-mRNA splicing. We identified biallelic mutations in TX …
A review of craniofacial disorders caused by spliceosomal defects.
Lehalle D, Wieczorek D, Zechi-Ceide RM, Passos-Bueno MR, Lyonnet S, Amiel J, Gordon CT. Lehalle D, et al. Clin Genet. 2015 Nov;88(5):405-15. doi: 10.1111/cge.12596. Epub 2015 May 1. Clin Genet. 2015. PMID: 25865758 Review.
Mutations in several other genes involved in spliceosomal function or linked aspects of mRNA processing have also recently been identified in human disorders with specific craniofacial malformations: SF3B4 in Nager syndrome, an acrofacial dysostosis (AFD); SNRPB in cerebrocostoma …
Mutations in several other genes involved in spliceosomal function or linked aspects of mRNA processing have also recently been identified i …
Modelling the developmental spliceosomal craniofacial disorder Burn-McKeown syndrome using induced pluripotent stem cells.
Wood KA, Rowlands CF, Thomas HB, Woods S, O'Flaherty J, Douzgou S, Kimber SJ, Newman WG, O'Keefe RT. Wood KA, et al. PLoS One. 2020 Jul 31;15(7):e0233582. doi: 10.1371/journal.pone.0233582. eCollection 2020. PLoS One. 2020. PMID: 32735620 Free PMC article.
The craniofacial developmental disorder Burn-McKeown Syndrome (BMKS) is caused by biallelic variants in the pre-messenger RNA splicing factor gene TXNL4A/DIB1. The majority of affected individuals with BMKS have a 34 base pair deletion in the promoter …
The craniofacial developmental disorder Burn-McKeown Syndrome (BMKS) is caused by biallelic variants in the pre-messeng …
Burn-McKeown syndrome with biallelic promoter type 2 deletion in TXNL4A in two siblings.
Narayanan DL, Purushothama G, Bhavani GS, Shukla A. Narayanan DL, et al. Am J Med Genet A. 2020 Jun;182(6):1313-1315. doi: 10.1002/ajmg.a.61554. Epub 2020 Mar 18. Am J Med Genet A. 2020. PMID: 32187816
Burn-McKeown syndrome (BMKS) (MIM# 608572) is a rare condition caused by biallelic variants in TXNL4A. ...Homozygosity or compound heterozygosity of promoter deletions and null variants in TXNL4A are known to cause most cases of BMKS. We describ …
Burn-McKeown syndrome (BMKS) (MIM# 608572) is a rare condition caused by biallelic variants in TXNL4A. ...Homozy …
The Renpenning syndrome-associated protein PQBP1 facilitates the nuclear import of splicing factor TXNL4A through the karyopherin beta2 receptor.
Liu X, Dou LX, Han J, Zhang ZC. Liu X, et al. J Biol Chem. 2020 Mar 27;295(13):4093-4100. doi: 10.1074/jbc.RA119.012214. Epub 2020 Feb 10. J Biol Chem. 2020. PMID: 32041777 Free PMC article.
PQBP1 uses its C-terminal YxxPxxVL motif for binding to the splicing factor TXNL4A (thioredoxin like 4A), but the biological function of this interaction has yet to be elucidated. In this study, using recombinant protein expression, in vitro binding assays, and immunofluor …
PQBP1 uses its C-terminal YxxPxxVL motif for binding to the splicing factor TXNL4A (thioredoxin like 4A), but the biological function …
Hepatocellular Adenoma in an Infant With Burn-McKeown Syndrome: Report of a Case.
González IA, Surrey LF, Russo P. González IA, et al. Pediatr Dev Pathol. 2022 Nov-Dec;25(6):668-671. doi: 10.1177/10935266221109468. Epub 2022 Oct 19. Pediatr Dev Pathol. 2022. PMID: 36262073
Here we present an autopsy case of a 9-month-old girl with Burn-McKeown syndrome with an incidental liver nodule in the right lobe measuring 1.5 cm in greatest dimension. ...
Here we present an autopsy case of a 9-month-old girl with Burn-McKeown syndrome with an incidental liver nodule in the …
A novel tp53-associated nomogram to predict the overall survival in patients with pancreatic cancer.
Liu X, Chen B, Chen J, Sun S. Liu X, et al. BMC Cancer. 2021 Mar 31;21(1):335. doi: 10.1186/s12885-021-08066-2. BMC Cancer. 2021. PMID: 33789615 Free PMC article.
A seven-gene signature was constructed: Risk score = (0.1254 ERRFI1) - (0.1365 IL6R) - (0.4400 PPP1R10) - (0.3397 PTOV1-AS2) + (0.1544 SCEL) - (0.4412 SSX2IP) - (0.2231 TXNL4A). Area Under Curves of 1-, 3-, and 5-year ROC curves were 0.731, 0.808, and 0.873 in the training …
A seven-gene signature was constructed: Risk score = (0.1254 ERRFI1) - (0.1365 IL6R) - (0.4400 PPP1R10) - (0.3397 PTOV1-AS2) + (0.1544 SCEL) …
16 results