A novel frameshift TBX4 variant in a family with ischio-coxo-podo-patellar syndrome and variable severity

Agarwal V, Bell GW, Nam J-W, Bartel DP (2015) Predicting effective microRNA target sites in mammalian mRNAs. Elife, 4. https://doi.org/10.7554/eLife.05005

Bongers EMHF, Duijf PHG, van Beersum SEM, Schoots J, Van Kampen A, Burckhardt A, Hamel BCJ, Losan F, Hoefsloot LH, Yntema HG, Knoers NVA, M., van Bokhoven H (2004) Mutations in the human TBX4 gene cause small patella syndrome. Am J Hum Genet 74(6):1239–1248. https://doi.org/10.1086/421331

Article  CAS  PubMed  PubMed Central  Google Scholar 

Bongers EMHF, van Kampen A, van Bokhoven H, Knoers NVAM (2005) Human syndromes with congenital patellar anomalies and the underlying gene defects. Clin Genet 68(4):302–319. https://doi.org/10.1111/j.1399-0004.2005.00508.x

Article  CAS  PubMed  Google Scholar 

De Paoli F, Nicora G, Berardelli S, Gazzo A, Bellazzi R, Magni P, Rizzo E, Limongelli I, Zucca S (2023) Digenic variant interpretation with hypothesis-driven explainable AI. BioRxiv 20231002560464. https://doi.org/10.1101/2023.10.02.560464

https://franklin.genoox.com (2022) Franklin by Genoox

https://omim.org/ (2022) OMIM. Online Mendelian Inheritance in Man, OMIM®. McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University (Baltimore, MD)

https://www.engenome.com/. (n.d.)

İlyas G, Eren TK, Kaptan AY, Ulucaköy C, Kanatlı U (2018) Bilateral congenital dislocation of the patella associated with synostosis of proximal tibiofibular and proximal radioulnar joints: a case report. Eklem Hastalik Cerrahisi 29(2):123–127. https://doi.org/10.5606/ehc.2018.61318

Article  PubMed  Google Scholar 

Karolak JA, Szafranski P, Kilner D, Patel C, Scurry B, Kinning E, Chandler K, Jhangiani SN, Akdemir C, Lupski ZH, Popek JR, E., Stankiewicz P (2019) Heterozygous CTNNB1 and TBX4 variants in a patient with abnormal lung growth, pulmonary hypertension, microcephaly, and spasticity. Clin Genet 96(4):366–370. https://doi.org/10.1111/cge.13605

Article  CAS  PubMed  PubMed Central  Google Scholar 

Karolak JA, Gambin T, Honey EM, Slavik T, Popek E, Stankiewicz P (2020) A de novo 2.2 mb recurrent 17q23.1q23.2 deletion unmasks novel putative regulatory non-coding SNVs associated with lethal lung hypoplasia and pulmonary hypertension: a case report. BMC Med Genomics 13(1):34. https://doi.org/10.1186/s12920-020-0701-6

Article  CAS  PubMed  PubMed Central  Google Scholar 

Karolak JA, Welch CL, Mosimann C, Bzdęga K, West JD, Montani D, Eyries M, Mullen MP, Abman SH, Prapa M, Gräf S, Morrell NW, Hemnes AR, Perros F, Hamid R, Logan MPO, Whitsett J, Galambos C, Stankiewicz P, Austin ED (2023) Molecular function and contribution of TBX4 in Development and Disease. Am J Respir Crit Care Med 207(7):855–864. https://doi.org/10.1164/rccm.202206-1039TR

Article  CAS  PubMed  Google Scholar 

Kerstjens-Frederikse WS, Bongers EMHF, Roofthooft MTR, Leter EM, Douwes JM, Van Dijk A, Vonk-Noordegraaf A, Dijk-Bos KK, Hoefsloot LH, Hoendermis ES, Gille JJP, Sikkema-Raddatz B, Hofstra RMW, Berger RMF (2013) TBX4 mutations (small patella syndrome) are associated with childhood-onset pulmonary arterial hypertension. J Med Genet 50(8):500–506. https://doi.org/10.1136/jmedgenet-2012-101152

Article  CAS  PubMed  Google Scholar 

Kopanos C, Tsiolkas V, Kouris A, Chapple CE, Albarca Aguilera M, Meyer R, Massouras A (2019) VarSome: the human genomic variant search engine. Bioinformatics 35(11):1978–1980. https://doi.org/10.1093/bioinformatics/bty897

Article  CAS  PubMed  Google Scholar 

Kruse LM, Dobbs MB, Gurnett CA (2008) Polygenic threshold model with sex dimorphism in clubfoot inheritance: the Carter effect. J Bone Joint Surg Am 90(12):2688–2694. https://doi.org/10.2106/JBJS.G.01346

Article  PubMed  PubMed Central  Google Scholar 

Landrum MJ, Lee JM, Benson M, Brown GR, Chao C, Chitipiralla S, Gu B, Hart J, Hoffman D, Jang W, Karapetyan K, Katz K, Liu C, Maddipatla Z, Malheiro A, McDaniel K, Ovetsky M, Riley G, Zhou G, Maglott DR (2018) ClinVar: improving access to variant interpretations and supporting evidence. Nucleic Acids Res 46(D1):D1062–D1067. https://doi.org/10.1093/nar/gkx1153

Article  CAS  PubMed  Google Scholar 

Levy M, Eyries M, Szezepanski I, Ladouceur M, Nadaud S, Bonnet D, Soubrier F (2016) Genetic analyses in a cohort of children with pulmonary hypertension. Eur Respir J 48(4):1118–1126. https://doi.org/10.1183/13993003.00211-2016

Article  CAS  PubMed  Google Scholar 

Lindeboom RGH, Supek F, Lehner B (2016) The rules and impact of nonsense-mediated mRNA decay in human cancers. Nat Genet 48(10):1112–1118. https://doi.org/10.1038/ng.3664

Article  CAS  PubMed  PubMed Central  Google Scholar 

Maddaloni C, Ronci S, De Rose DU, Bersani I, Campi F, Di Nardo M, Stoppa F, Adorisio R, Amodeo A, Toscano A, Digilio MC, Novelli A, Chello G, Braguglia A, Dotta A, Calzolari F (2024) Neonatal persistent pulmonary hypertension related to a novel TBX4 mutation: case report and review of the literature. Ital J Pediatr 50(1):41. https://doi.org/10.1186/s13052-024-01575-3

Article  CAS  PubMed  PubMed Central  Google Scholar 

Poplin R, Ruano-Rubio V, Depristo MA, Fennell TJ, Carneiro MO, Van Der Auwera GA, Kling DE, Gauthier LD, Levy-Moonshine A, Roazen D, Shakir K, Thibault J, Chandran S, Whelan C, Lek M, Gabriel S, Daly MJ, Neale B, Macarthur DG, Banks E (2018) Scaling accurate genetic variant discovery to tens of thousands of samples. https://doi.org/10.1101/201178

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL (2015) Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Sci 17(5):405–424. https://doi.org/10.1038/gim.2015.30

Article  Google Scholar 

Samuels ME, Campeau PM (2019) Genetics of the patella. Eur J Hum Genet 27(5):671–680. https://doi.org/10.1038/s41431-018-0329-6

Article  PubMed  PubMed Central  Google Scholar 

Schwarz JM, Cooper DN, Schuelke M, Seelow D (2014) MutationTaster2: mutation prediction for the deep-sequencing age. Nat Methods 11(4):361–362. https://doi.org/10.1038/nmeth.2890

Article  CAS  PubMed  Google Scholar 

Stenson PD, Ball EV, Mort M, Phillips AD, Shiel JA, Thomas NST, Abeysinghe S, Krawczak M, Cooper DN (2003) Human gene mutation database (HGMD): 2003 update. Hum Mutat 21(6):577–581. https://doi.org/10.1002/humu.10212

Article  CAS  PubMed  Google Scholar 

Vanlerberghe C, Boutry N, Petit F (2018) Genetics of patella hypoplasia/agenesis. Clin Genet 94(1):43–53. https://doi.org/10.1111/cge.13209

Article  CAS  PubMed  Google Scholar 

Warman ML, Cormier-Daire V, Hall C, Krakow D, Lachman R, LeMerrer M, Mortier G, Mundlos S, Nishimura G, Rimoin DL, Robertson S, Savarirayan R, Sillence D, Spranger J, Unger S, Zabel B, Superti-Furga A (2011) Nosology and classification of genetic skeletal disorders: 2010 revision. Am J Med Genet A 155A(5):943–968. https://doi.org/10.1002/ajmg.a.33909

Article  CAS  PubMed  Google Scholar 

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