Identification of novel mutations in EYA3 and EFTUD2 in a family with craniofacial microsomia: evidence of digenic inheritance

Nuo Si , Guoqin Zhan , Xiaolu Meng , Zeya Zhang , Xin Huang , Bo Pan

Front. Med. ›› 2023, Vol. 17 ›› Issue (5) : 1006 -1009.

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Front. Med. ›› 2023, Vol. 17 ›› Issue (5) : 1006 -1009. DOI: 10.1007/s11684-023-1000-3
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Identification of novel mutations in EYA3 and EFTUD2 in a family with craniofacial microsomia: evidence of digenic inheritance

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Nuo Si, Guoqin Zhan, Xiaolu Meng, Zeya Zhang, Xin Huang, Bo Pan. Identification of novel mutations in EYA3 and EFTUD2 in a family with craniofacial microsomia: evidence of digenic inheritance. Front. Med., 2023, 17(5): 1006-1009 DOI:10.1007/s11684-023-1000-3

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References

[1]

Keogh IJ, Troulis MJ, Monroy AA, Eavey RD, Kaban LB. Isolated microtia as a marker for unsuspected hemifacial microsomia. Arch Otolaryngol Head Neck Surg 2007; 133(10): 997–1001

[2]

Beleza-Meireles A, Clayton-Smith J, Saraiva JM, Tassabehji M. Oculo-auriculo-vertebral spectrum: a review of the literature and genetic update. J Med Genet 2014; 51(10): 635–645

[3]

Cox TC, Camci ED, Vora S, Luquetti DV, Turner EE. The genetics of auricular development and malformation: new findings in model systems driving future directions for microtia research. Eur J Med Genet 2014; 57(8): 394–401

[4]

Luquetti DV, Heike CL, Hing AV, Cunningham ML, Cox TC. Microtia: epidemiology and genetics. Am J Med Genet A 2012; 158A(1): 124–139

[5]

Fischer S, Lüdecke HJ, Wieczorek D, Böhringer S, Gillessen-Kaesbach G, Horsthemke B. Histone acetylation dependent allelic expression imbalance of BAPX1 in patients with the oculo-auriculo-vertebral spectrum. Hum Mol Genet 2006; 15(4): 581–587

[6]

Kobrynski L, Chitayat D, Zahed L, McGregor D, Rochon L, Brownstein S, Vekemans M, Albert DL. Trisomy 22 and facioauriculovertebral (Goldenhar) sequence. Am J Med Genet 1993; 46(1): 68–71

[7]

Choong YF, Watts P, Little E, Beck L. Goldenhar and cri-du-chat syndromes: a contiguous gene deletion syndrome?. J AAPOS 2003; 7(3): 226–227

[8]

Lopez E, Berenguer M, Tingaud-Sequeira A, Marlin S, Toutain A, Denoyelle F, Picard A, Charron S, Mathieu G, de Belvalet H, Arveiler B, Babin PJ, Lacombe D, Rooryck C. Mutations in MYT1, encoding the myelin transcription factor 1, are a rare cause of OAVS. J Med Genet 2016; 53(11): 752–760

[9]

Timberlake AT, Griffin C, Heike CL, Hing AV, Cunningham ML, Chitayat D, Davis MR, Doust SJ, Drake AF, Duenas-Roque MM, Goldblatt J, Gustafson JA, Hurtado-Villa P, Johns A, Karp N, Laing NG, Magee L; University of Washington Center for Mendelian Genomics; Mullegama SV, Pachajoa H, Porras-Hurtado GL, Schnur RE, Slee J, Singer SL, Staffenberg DA, Timms AE, Wise CA, Zarante I, Saint-Jeannet JP, Luquetti DV. Haploinsufficiency of SF3B2 causes craniofacial microsomia. Nat Commun 2021; 12(1): 4680

[10]

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; ACMG Laboratory Quality Assurance Committee. 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 Med 2015; 17(5): 405–424

[11]

Thomas HB, Wood KA, Buczek WA, Gordon CT, Pingault V, Attié-Bitach T, Hentges KE, Varghese VC, Amiel J, Newman WG, O’Keefe RT. EFTUD2 missense variants disrupt protein function and splicing in mandibulofacial dysostosis Guion-Almeida type. Hum Mutat 2020; 41(8): 1372–1382

[12]

Tingaud-Sequeira A, Trimouille A, Salaria M, Stapleton R, Claverol S, Plaisant C, Bonneu M, Lopez E, Arveiler B, Lacombe D, Rooryck C. A recurrent missense variant in EYA3 gene is associated with oculo-auriculo-vertebral spectrum. Hum Genet 2021; 140(6): 933–944

[13]

Fabrizio P, Laggerbauer B, Lauber J, Lane WS, Lührmann R. An evolutionarily conserved U5 snRNP-specific protein is a GTP-binding factor closely related to the ribosomal translocase EF-2. EMBO J 1997; 16(13): 4092–4106

[14]

Hateboer N, Buchalter M, Davies SJ, Lazarou LP, Ravine D. Co-occurrence of autosomal dominant polycystic kidney disease and Marfan syndrome in a kindred. Am J Kidney Dis 2000; 35(4): 753–760

[15]

Stuck MW, Conley SM, Naash MI. PRPH2/RDS and ROM-1: Historical context, current views and future considerations. Prog Retin Eye Res 2016; 52: 47–63

[16]

Kamar A, Khalil A, Nemer G. The digenic causality in familial hypercholesterolemia: revising the genotype-phenotype correlations of the disease. Front Genet 2021; 11: 572045

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