Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes

American Journal of Human Genetics

Volumn 97, Issue 1, 2015, Pages 99-110

  Marchegiani, Shannon ^a,b   Davis, Taylor ^a   Tessadori, Federico ^c   Van Haaften, Gijs ^c   Brancati, Francesco ^d   Hoischen, Alexander ^e   Huang, Haigen ^f   Valkanas, Elise ^a   Pusey, Barbara ^a   Schanze, Denny ^g   Venselaar, Hanka ^e   Vulto Van Silfhout, Anneke T ^e   Wolfe, Lynne A ^a   Tifft, Cynthia J ^a   Zerfas, Patricia M ^h   Zambruno, Giovanna ⁱ   Kariminejad, Ariana ^j   Sabbagh Kermani, Farahnaz ^k   Lee, Janice ^l   Tsokos, Maria G ^m   Lee, Chyi Chia R ^m   Ferraz, Victor ⁿ   Da Silva, Eduarda Morgana ⁿ   Stevens, Cathy A ^o   Roche, Nathalie ^p   Bartsch, Oliver ^q   Farndon, Peter ^r   Bermejo Sanchez, Eva ^s   Brooks, Brian P ^t   Maduro, Valerie ^a   Dallapiccola, Bruno ^u   Ramos, Feliciano J ^v   Chung, Hon Yin Brian ^w   Le Caignec, Cédric ^x,ab   Martins, Fabiana ⁿ   Jacyk, Witold K ^y   Mazzanti, Laura ^z   Brunner, Han G ^e,aa   Bakkers, Jeroen ^c   Lin, Shuo ^f   Malicdan, May Christine V ^a   Boerkoel, Cornelius F ^a   Gahl, William A ^a   De Vries, Bert B A ^e   Van Haelst, Mieke M ^c   Zenker, Martin ^g   Markello, Thomas C ^a   more..

^a NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^b WALTER REED ARMY MEDICAL CENTER   (United States)

^c UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^d UNIVERSITY OF CHIETI   (Italy)

^e RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^f UNIVERSITY OF CALIFORNIA   (United States)

^g UNIVERSITY HOSPITAL MAGDEBURG   (Germany)

^h NATIONAL INSTITUTES OF HEALTH   (United States)

ⁱ LABORATORIO DI PATOLOGIA VASCOLARE   (Italy)

^j Kariminejad Najmabadi Pathology and Genetics Center   (Iran)

^k KERMAN UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^l NATIONAL INSTITUTE OF DENTAL AND CRANIOFACIAL RESEARCH   (United States)

^m NATIONAL CANCER INSTITUTE   (United States)

ⁿ UNIVERSITY OF SÃO PAULO   (Brazil)

^o TC Thompson Children's Hospital   (United States)

^p GHENT UNIVERSITY HOSPITAL   (Belgium)

^q JOHANNES GUTENBERG UNIVERSITY   (Germany)

^r BIRMINGHAM CHILDREN S HOSPITAL NHS FOUNDATION TRUST   (United Kingdom)

^s CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

^t NATIONAL EYE INSTITUTE   (United States)

^u BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^v UNIVERSITY OF ZARAGOZA   (Spain)

^w UNIVERSITY OF HONG KONG   (Hong Kong)

^x NANTES UNIVERSITY HOSPITAL   (France)

^y UNIVERSITY OF PRETORIA   (South Africa)

^z UNIVERSITY OF BOLOGNA   (Italy)

^aa MAASTRICHT UNIVERSITY MEDICAL CENTER   (Netherlands)

^ab UNIVERSITÉ DE NANTES   (France)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; BASIC HELIX LOOP HELIX TRANSCRIPTION FACTOR; GLUTAMINE; LYSINE; MESSENGER RNA; TWIST 2 PROTEIN; UNCLASSIFIED DRUG; REPRESSOR PROTEIN; TWIST RELATED PROTEIN 1; TWIST2 PROTEIN, HUMAN;

ABLEPHARON MACROSTOMIA SYMDROME; AMINO ACID SUBSTITUTION; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; BARBER SAY SYNDROME; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DNA BINDING; ECTODERMAL DYSPLASIA; EXOME; FEMALE; GENE MUTATION; GENE SEQUENCE; GENOTYPE PHENOTYPE CORRELATION; HUMAN; HUMAN CELL; HUMAN TISSUE; MALE; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DOMAIN; RARE DISEASE; TRANSGENIC ZEBRAFISH; AMINO ACID SEQUENCE; ANIMAL; CHEMISTRY; CHROMATIN IMMUNOPRECIPITATION; CONGENITAL SKIN DISEASE; DNA SEQUENCE; ELECTRON MICROSCOPY; EYE MALFORMATION; EYELID DISEASE; GENETICS; HELA CELL LINE; HIRSUTISM; HYPERTELORISM; HYPERTRICHOSIS; MACROSTOMIA; MISSENSE MUTATION; MOLECULAR GENETICS; MOLECULAR MODEL; MULTIPLE MALFORMATION SYNDROME; NUCLEOTIDE SEQUENCE; PATHOLOGY; PROTEIN CONFORMATION; ZEBRA FISH;

DANIO RERIO; PROTEA;

ABNORMALITIES, MULTIPLE; AMINO ACID SEQUENCE; ANIMALS; BASE SEQUENCE; CHROMATIN IMMUNOPRECIPITATION; EXOME; EYE ABNORMALITIES; EYELID DISEASES; HELA CELLS; HIRSUTISM; HUMANS; HYPERTELORISM; HYPERTRICHOSIS; MACROSTOMIA; MICROSCOPY, ELECTRON; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PHENOTYPE; PROTEIN CONFORMATION; REPRESSOR PROTEINS; SEQUENCE ANALYSIS, DNA; SKIN ABNORMALITIES; TWIST-RELATED PROTEIN 1; ZEBRAFISH;

EID: 84937521862     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2015.05.017     Document Type: Article

References (68)

1. A.A.V. Cruz, F.C. Guimarães, H.N. Obeid, V.E.F. Ferraz, T.R. Noce, and F.E. Martinez Congenital shortening of the anterior lamella of all eyelids: the so-called ablepharon macrostomia syndrome Ophthal. Plast. Reconstr. Surg. 11 1995 284 287
2. A.A. Cruz, C.A. Souza, V.E. Ferraz, C.A. Monteiro, and F.A. Martins Familial occurrence of ablepharon macrostomia syndrome: eyelid structure and surgical considerations Arch. Ophthalmol. 118 2000 428 430
3. D.J. Amor, and R. Savarirayan Intermediate form of ablepharon-macrostomia syndrome with CNS abnormalities Am. J. Med. Genet. 103 2001 252 254
4. N. Barber, B. Say, R.F. Bell, and O.C. Merveille Macrostomia, ectropion, atrophic skin, hypertrichosis and growth retardation Syndr. Ident. 8 1982 6 9
5. F. Brancati, R. Mingarelli, A. Sarkozy, and B. Dallapiccola Ablepharon-macrostomia syndrome in a 46-year-old woman Am. J. Med. Genet. A. 127A 2004 96 98
6. D.P. Cavalcanti, V. Matejas, D. Luquetti, M.F. Mello, and M. Zenker Fraser and Ablepharon macrostomia phenotypes: concurrence in one family and association with mutated FRAS1 Am. J. Med. Genet. A. 143A 2007 241 247
7. A. David, A. Gordeeff, J. Badoual, and J. Delaire Macrostomia, ectropion, atrophic skin, hypertrichosis: another observation Am. J. Med. Genet. 39 1991 112 115
8. M.B. Dinulos, and R.A. Pagon Autosomal dominant inheritance of Barber-Say syndrome Am. J. Med. Genet. 86 1999 54 56
9. V.E. Ferraz, D.G. Melo, S.E. Hansing, A.A. Cruz, and J.M. Pina-Neto Ablepharon-macrostomia syndrome: first report of familial occurrence Am. J. Med. Genet. 94 2000 281 283
10. J. Haensel, N. Kohlschmidt, S. Pitz, A. Keilmann, M. Zenker, R. Ullmann, T. Haaf, and O. Bartsch Case report supporting that the Barber-Say and ablepharon macrostomia syndromes could represent one disorder Am. J. Med. Genet. A. 149A 2009 2236 2240
11. A. Hornblass, and D.M. Reifler Ablepharon macrostomia syndrome Am. J. Ophthalmol. 99 1985 552 556
12. I.T. Jackson, K.E. Shaw, and F. del Pinal Matorras A new feature of the ablepharon macrostomia syndrome: zygomatic arch absence Br. J. Plast. Surg. 41 1988 410 416
13. S. Kallish, D.M. McDonald-McGinn, M.M. van Haelst, S.P. Bartlett, J.A. Katowitz, and E.H. Zackai Ablepharon-Macrostomia syndrome - extension of the phenotype Am. J. Med. Genet. A. 155A 2011 3060 3062
14. S. Martínez Santana, F. Pérez Alvarez, J.L. Frías, and M.L. Martínez-Frías Hypertrichosis, atrophic skin, ectropion, and macrostomia (Barber-Say syndrome): report of a new case Am. J. Med. Genet. 47 1993 20 23
15. F. Martins, K.L. Ortega, C. Hiraoka, P. Ricardo, and M. Magalhães Oral and dental abnormalities in Barber-Say syndrome Am. J. Med. Genet. A. 152A 2010 2569 2573
16. L. Mazzanti, R. Bergamaschi, I. Neri, A. Perri, A. Patrizi, E. Cacciari, and A. Forabosco Barber-Say Syndrome: report of a new case Am. J. Med. Genet. 78 1998 188 191
17. G.T. McCarthy, and C.M. West Ablepheron macrostomia syndrome Dev. Med. Child Neurol. 19 1977 659 663
18. J.D. Ng, and D.S. Rajguru Oculoplastic approach to treating Barber-Say syndrome Ophthal. Plast. Reconstr. Surg. 22 2006 232 234
19. J.E. Pellegrino, R.E. Schnur, L. Boghosian-Sell, G. Strathdee, J. Overhauser, N.B. Spinner, T. Stump, K. Grace, and E.H. Zackai Ablepharon macrostomia syndrome with associated cutis laxa: possible localization to 18q Hum. Genet. 97 1996 532 536
20. N.J. Price, R.E. Pugh, P.A. Farndon, and H.E. Willshaw Ablepharon macrostomia syndrome Br. J. Ophthalmol. 75 1991 317 319
21. N. Roche, P. Houtmeyers, S. Janssens, and P. Blondeel Barber-Say syndrome in a father and daughter Am. J. Med. Genet. A. 152A 2010 2563 2568
22. L. Rohena, D. Kuehn, S. Marchegiani, and J.D. Higginson Evidence for autosomal dominant inheritance of ablepharon-macrostomia syndrome Am. J. Med. Genet. A. 155A 2011 850 854
23. R. Sod, G. Izbizky, and M. Cohen-Salama Macrostomia, hypertelorism, atrophic skin, severe hypertrichosis without ectropion: milder form of Barber-Say Syndrome Am. J. Med. Genet. 73 1997 366 367
24. C.A. Stevens, and L.A. Sargent Ablepharon-macrostomia syndrome Am. J. Med. Genet. 107 2002 30 37
25. D. Tenea, and W.K. Jacyk What syndrome is this? Barber-Say syndrome Pediatr. Dermatol. 23 2006 183 184
26. F.M. Cortes, L.A. Troncoso, A.R. Alliende, and B.L. Curotto Barber-Say syndrome: further delineation of the clinical spectrum Genet. Mol. Biol. 23 2000 265 267
27. J.E. Allanson, C. Cunniff, H.E. Hoyme, J. McGaughran, M. Muenke, and G. Neri Elements of morphology: standard terminology for the head and face Am. J. Med. Genet. A. 149A 2009 6 28
28. L.G. Biesecker, J.M. Aase, C. Clericuzio, F. Gurrieri, I.K. Temple, and H. Toriello Elements of morphology: standard terminology for the hands and feet Am. J. Med. Genet. A. 149A 2009 93 127
29. J.C. Carey, M.M. Cohen Jr., C.J. Curry, K. Devriendt, L.B. Holmes, and A. Verloes Elements of morphology: standard terminology for the lips, mouth, and oral region Am. J. Med. Genet. A. 149A 2009 77 92
30. B.D. Hall, J.M. Graham Jr., S.B. Cassidy, and J.M. Opitz Elements of morphology: standard terminology for the periorbital region Am. J. Med. Genet. A. 149A 2009 29 39
31. R.C. Hennekam, J.E. Allanson, L.G. Biesecker, J.C. Carey, J.M. Opitz, and E. Vilain Elements of morphology: standard terminology for the external genitalia Am. J. Med. Genet. A. 161A 2013 1238 1263
32. R.C. Hennekam, V. Cormier-Daire, J.G. Hall, K. Méhes, M. Patton, and R.E. Stevenson Elements of morphology: standard terminology for the nose and philtrum Am. J. Med. Genet. A. 149A 2009 61 76
33. A. Hunter, J.L. Frias, G. Gillessen-Kaesbach, H. Hughes, K.L. Jones, and L. Wilson Elements of morphology: standard terminology for the ear Am. J. Med. Genet. A. 149A 2009 40 60
34. G. Klinger, and P. Merlob Elements of morphology: standard terminology for the ear - additional features Am. J. Med. Genet. A. 149A 2009 1606 author reply 1607
35. L. Li, P. Cserjesi, and E.N. Olson Dermo-1: a novel twist-related bHLH protein expressed in the developing dermis Dev. Biol. 172 1995 280 292
36. R.M. Barnes, and A.B. Firulli A twist of insight - the role of Twist-family bHLH factors in development Int. J. Dev. Biol. 53 2009 909 924
37. X.Q. Gong, and L. Li Dermo-1, a multifunctional basic helix-loop-helix protein, represses MyoD transactivation via the HLH domain, MEF2 interaction, and chromatin deacetylation J. Biol. Chem. 277 2002 12310 12317
38. D. Sosic, and E.N. Olson A new twist on twist - modulation of the NF-kappa B pathway Cell Cycle 2 2003 76 78
39. D. Šošić, J.A. Richardson, K. Yu, D.M. Ornitz, and E.N. Olson Twist regulates cytokine gene expression through a negative feedback loop that represses NF-kappaB activity Cell 112 2003 169 180
40. S. Isenmann, A. Arthur, A.C. Zannettino, J.L. Turner, S. Shi, C.A. Glackin, and S. Gronthos TWIST family of basic helix-loop-helix transcription factors mediate human mesenchymal stem cell growth and commitment Stem Cells 27 2009 2457 2468
41. M.S. Lee, G. Lowe, S. Flanagan, K. Kuchler, and C.A. Glackin Human Dermo-1 has attributes similar to twist in early bone development Bone 27 2000 591 602
42. A.R. Cullinane, T. Vilboux, K. O'Brien, J.A. Curry, D.M. Maynard, H. Carlson-Donohoe, C. Ciccone, T.C. Markello, M. Gunay-Aygun, M. Huizing, W.A. Gahl NISC Comparative Sequencing Program Homozygosity mapping and whole-exome sequencing to detect SLC45A2 and G6PC3 mutations in a single patient with oculocutaneous albinism and neutropenia J. Invest. Dermatol. 131 2011 2017 2025
43. T.C. Markello, T. Han, H. Carlson-Donohoe, C. Ahaghotu, U. Harper, M. Jones, S. Chandrasekharappa, Y. Anikster, D.R. Adams, W.A. Gahl, C.F. Boerkoel NISC Comparative Sequencing Program Recombination mapping using Boolean logic and high-density SNP genotyping for exome sequence filtering Mol. Genet. Metab. 105 2012 382 389
44. W.A. Gahl, T.C. Markello, C. Toro, K.F. Fajardo, M. Sincan, F. Gill, H. Carlson-Donohoe, A. Gropman, T.M. Pierson, G. Golas, and et al. The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases Genet. Med. 14 2012 51 59
45. W.A. Gahl, and C.J. Tifft The NIH Undiagnosed Diseases Program: lessons learned JAMA 305 2011 1904 1905
46. H. Li, and R. Durbin Fast and accurate short read alignment with Burrows-Wheeler transform Bioinformatics 25 2009 1754 1760
47. Y. Zhang, T. Liu, C.A. Meyer, J. Eeckhoute, D.S. Johnson, B.E. Bernstein, C. Nusbaum, R.M. Myers, M. Brown, W. Li, and X.S. Liu Model-based analysis of ChIP-Seq (MACS) Genome Biol. 9 2008 R137
48. A.R. Quinlan, and I.M. Hall BEDTools: a flexible suite of utilities for comparing genomic features Bioinformatics 26 2010 841 842
49. H. Shin, T. Liu, A.K. Manrai, and X.S. Liu CEAS: cis-regulatory element annotation system Bioinformatics 25 2009 2605 2606
50. P. Machanick, and T.L. Bailey MEME-ChIP: motif analysis of large DNA datasets Bioinformatics 27 2011 1696 1697
51. M. Westerfield The Zebrafish Book. A Guide for the Laboratory Use of Zebrafish (Danio rerio) 2000 Eugene: University of Oregon Press
52. A. Dobin, C.A. Davis, F. Schlesinger, J. Drenkow, C. Zaleski, S. Jha, P. Batut, M. Chaisson, and T.R. Gingeras STAR: ultrafast universal RNA-seq aligner Bioinformatics 29 2013 15 21
53. S. Anders, and W. Huber Differential expression analysis for sequence count data Genome Biol. 11 2010 R106
54. E. Eden, R. Navon, I. Steinfeld, D. Lipson, and Z. Yakhini GOrilla: a tool for discovery and visualization of enriched GO terms in ranked gene lists BMC Bioinformatics 10 2009 48
55. E. Eden, D. Lipson, S. Yogev, and Z. Yakhini Discovering motifs in ranked lists of DNA sequences PLoS Comput. Biol. 3 2007 e39
56. V. el Ghouzzi, M. Le Merrer, F. Perrin-Schmitt, E. Lajeunie, P. Benit, D. Renier, P. Bourgeois, A.L. Bolcato-Bellemin, A. Munnich, and J. Bonaventure Mutations of the TWIST gene in the Saethre-Chotzen syndrome Nat. Genet. 15 1997 42 46
57. T.D. Howard, W.A. Paznekas, E.D. Green, L.C. Chiang, N. Ma, R.I. Ortiz de Luna, C. Garcia Delgado, M. Gonzalez-Ramos, A.D. Kline, and E.W. Jabs Mutations in TWIST, a basic helix-loop-helix transcription factor, in Saethre-Chotzen syndrome Nat. Genet. 15 1997 36 41
58. D.L. Stemple, L. Solnica-Krezel, F. Zwartkruis, S.C. Neuhauss, A.F. Schier, J. Malicki, D.Y. Stainier, S. Abdelilah, Z. Rangini, E. Mountcastle-Shah, and W. Driever Mutations affecting development of the notochord in zebrafish Development 123 1996 117 128
59. N. Floc'h, J. Kolodziejski, L. Akkari, Y. Simonin, S. Ansieau, A. Puisieux, U. Hibner, and P. Lassus Modulation of oxidative stress by twist oncoproteins PLoS ONE 8 2013 e72490
60. J. Fu, L. Qin, T. He, J. Qin, J. Hong, J. Wong, L. Liao, and J. Xu The TWIST/Mi2/NuRD protein complex and its essential role in cancer metastasis Cell Res. 21 2011 275 289
61. D. Gasparotto, J. Polesel, A. Marzotto, R. Colladel, S. Piccinin, P. Modena, A. Grizzo, S. Sulfaro, D. Serraino, L. Barzan, and et al. Overexpression of TWIST2 correlates with poor prognosis in head and neck squamous cell carcinomas Oncotarget 2 2011 1165 1175
62. T. Wang, Y. Li, W. Wang, A. Tuerhanjiang, Z. Wu, R. Yang, M. Yuan, D. Ma, W. Wang, and S. Wang Twist2, the key Twist isoform related to prognosis, promotes invasion of cervical cancer by inducing epithelial-mesenchymal transition and blocking senescence Hum. Pathol. 45 2014 1839 1846
63. Y. Teng, and X. Li The roles of HLH transcription factors in epithelial mesenchymal transition and multiple molecular mechanisms Clin. Exp. Metastasis 31 2014 367 377
64. D.E. Cervantes-Barragán, C.E. Villarroel, A. Medrano-Hernández, C. Durán-McKinster, V. Bosch-Canto, V. Del-Castillo, I. Nazarenko, A. Yang, and R.J. Desnick Setleis syndrome in Mexican-Nahua sibs due to a homozygous TWIST2 frameshift mutation and partial expression in heterozygotes: review of the focal facial dermal dysplasias and subtype reclassification J. Med. Genet. 48 2011 716 720
65. H.L. Franco, J.J. Casasnovas, R.G. Leon, R. Friesel, Y. Ge, R.J. Desnick, and C.L. Cadilla Nonsense mutations of the bHLH transcription factor TWIST2 found in Setleis Syndrome patients cause dysregulation of periostin Int. J. Biochem. Cell Biol. 43 2011 1523 1531
66. R.O. Rosti, Z.O. Uyguner, I. Nazarenko, M. Bekerecioglu, C.L. Cadilla, H. Ozgur, B.H. Lee, A.K. Aggarwal, S. Pehlivan, and R.J. Desnick Setleis syndrome: clinical, molecular and structural studies of the first TWIST2 missense mutation Clin. Genet. 2014 10.1111/cge.12539 Published online December 11, 2014
67. T. Tukel, D. Šošić, L.I. Al-Gazali, M. Erazo, J. Casasnovas, H.L. Franco, J.A. Richardson, E.N. Olson, C.L. Cadilla, and R.J. Desnick Homozygous nonsense mutations in TWIST2 cause Setleis syndrome Am. J. Hum. Genet. 87 2010 289 296
68. K.M. Girisha, A.M. Bidchol, M.K. Sarpangala, and K. Satyamoorthy A novel frameshift mutation in TWIST2 gene causing Setleis syndrome Indian J. Pediatr. 81 2014 302 304