EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia

Journal of Medical Genetics

Volumn 49, Issue 12, 2012, Pages 737-746

  Gordon, Christopher T ^a   Petit, Florence ^b   Oufadem, Myriam ^a   Decaestecker, Charles ^b   Jourdain, Anne Sophie ^b   Andrieux, Joris ^b   Malan, Valérie ^c   Alessandri, Jean Luc ^d   Baujat, Geneviève ^c   Baumann, Clarisse ^e   Boute Benejean, Odile ^b   Caumes, Roseline ^c   Delobel, Bruno ^f   Dieterich, Klaus ^g   Gaillard, Dominique ^h   Gonzales, Marie ⁱ   Lacombe, Didier ^j   Escande, Fabienne ^b   Manouvrier Hanu, Sylvie ^b   Marlin, Sandrine ^k   Mathieu Dramard, Michèle ^l   Mehta, Sarju G ^m   Simonic, Ingrid ^m   Munnich, Arnold ^a,c   Vekemans, Michel ^a,c   Porchet, Nicole ^b   de Pontual, Loïc ^a,n   Sarnacki, Sabine ^c   Attie Bitach, Tania ^a,c   Lyonnet, Stanislas ^a,c   Holder Espinasse, Muriel ^b   Amiel, Jeanne ^a,c   more..

^a IMAGINE INSTITUTE   (France)

^b LILLE UNIVERSITY HOSPITAL   (France)

^c HÔPITAL NECKER ENFANTS MALADES   (France)

^d Centre Hospitalier Departemental Felix Guyon   (France)

^e HÔPITAL ROBERT DEBRÉ   (France)

^f HÔPITAL SAINT VINCENT DE PAUL   (France)

^g GRENOBLE UNIVERSITY HOSPITAL   (France)

^h HÔPITAL MAISON BLANCHE   (France)

ⁱ Section of Radiology   (France)

^j UNIVERSITÉ DE BORDEAUX   (France)

^k ARMAND TROUSSEAU HOSPITAL   (France)

^l AMIENS UNIVERSITY HOSPITAL   (France)

^m ADDENBROOKE S HOSPITAL   (United Kingdom)

ⁿ UNIVERSITÉ PARIS 13   (France)

more..

Author keywords

[No Author keywords available]

Indexed keywords

EFTUD2 PROTEIN; MESSENGER RNA; PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; CHILD; CHOANA ATRESIA; CHROMOSOME 17Q; CHROMOSOME TRANSLOCATION; CLEFT PALATE; CLINICAL ARTICLE; EAR DYSPLASIA; EMBRYO; EMBRYO DEVELOPMENT; EPILEPSY; ESOPHAGUS ATRESIA; ESOPHAGUS DISEASE; FACE ASYMMETRY; FEMALE; GASTROESOPHAGEAL REFLUX; GENE DELETION; HAPLOINSUFFICIENCY; HEARING IMPAIRMENT; HEART ATRIUM SEPTUM DEFECT; HEART VENTRICLE SEPTUM DEFECT; HETEROZYGOTE; HUMAN; KARYOTYPE; LOSS OF FUNCTION MUTATION; LOW BIRTH WEIGHT; MALE; MANDIBULOFACIAL DYSOSTOSIS; MICROCEPHALY; MICROTIA; MOUSE; NEUROIMAGING; NONHUMAN; NUCLEOTIDE SEQUENCE; PATENT DUCTUS ARTERIOSUS; PATENT FORAMEN OVALE; PERCEPTION DEAFNESS; PRIORITY JOURNAL; PROTEIN EXPRESSION; PULMONARY ARTERY MALFORMATION; SCHOOL CHILD; SEQUENCE ANALYSIS; SPLICEOSOME; SYNDROME CHARGE;

ADOLESCENT; CHILD; CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 17; COMPARATIVE GENOMIC HYBRIDIZATION; ESOPHAGEAL ATRESIA; FACIES; FEMALE; HAPLOINSUFFICIENCY; HUMANS; INFANT; MALE; PEPTIDE ELONGATION FACTORS; PHENOTYPE; SYNDROME;

EID: 84872031772     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2012-101173     Document Type: Article

References (33)

1. Que J, Choi M, Ziel JW, Klingensmith J, Hogan BL. Morphogenesis of the trachea and esophagus: current players and new roles for noggin and Bmps. Differentiation 2006;74:422-37.
2. Genevieve D, de Pontual L, Amiel J, Lyonnet S. Genetic factors in isolated and syndromic esophageal atresia. J Pediatr Gastroenterol Nutr 2011;52(Suppl 1):S6-8.
3. de Pontual L, Yao E, Callier P, Faivre L, Drouin V, Cariou S, Van Haeringen A, Genevieve D, Goldenberg A, Oufadem M, Manouvrier S, Munnich A, Vidigal JA, Vekemans M, Lyonnet S, Henrion-Caude A, Ventura A, Amiel J. Germline deletion of the miR-17 approximately 92 cluster causes skeletal and growth defects in humans. Nat Genet 2011;43:1026-30.
4. De Falco F, Cainarca S, Andolfi G, Ferrentino R, Berti C, Rodriguez Criado G, Rittinger O, Dennis N, Odent S, Rastogi A, Liebelt J, Chitayat D, Winter R, Jawanda H, Ballabio A, Franco B, Meroni G. X-linked Opitz syndrome: novel mutations in the MID1 gene and redefinition of the clinical spectrum. Am J Med Genet A 2003;120A:222-8.
5. Passos-Bueno MR, Ornelas CC, Fanganiello RD. Syndromes of the first and second pharyngeal arches: A review. Am J Med Genet A 2009;149A:1853-9.
6. Lines MA, Huang L, Schwartzentruber J, Douglas SL, Lynch DC, Beaulieu C, Guion-Almeida ML, Zechi-Ceide RM, Gener B, Gillessen-Kaesbach G, Nava C, Baujat G, Horn D, Kini U, Caliebe A, Alanay Y, Utine GE, Lev D, Kohlhase J, Grix AW, Lohmann DR, Hehr U, Bohm D, Majewski J, Bulman DE, Wieczorek D, Boycott KM. Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly. Am J Hum Genet 2012;90:369-77.
7. Sutphen R, Galan-Gomez E, Cortada X, Newkirk PN, Kousseff BG. Tracheoesophageal anomalies in oculoauriculovertebral (Goldenhar) spectrum. Clin Genet 1995;48:66-71.
8. Rooryck C, Souakri N, Cailley D, Bouron J, Goizet C, Delrue MA, Marlin S, Lacombe FD, Arveiler B. Array-CGH analysis of a cohort of 86 patients with oculoauriculovertebral spectrum. Am J Med Genet A 2010;152A:1984-9.
9. Puusepp H, Zilina O, Teek R, Mannik K, Parkel S, Kruustuk K, Kuuse K, Kurg A, Ounap K. 5.9 Mb microdeletion in chromosome band 17q22-q23.2 associated with tracheo-esophageal fistula and conductive hearing loss. Eur J Med Genet 2009;52:71-4.
10. Fabrizio P, Laggerbauer B, Lauber J, Lane WS, Luhrmann R. An evolutionarily conserved U5 snRNP-specific protein is a GTP-binding factor closely related to the ribosomal translocase EF-2. EMBO J 1997;16:4092-106.
11. Brenner TJ, Guthrie C. Genetic analysis reveals a role for the C terminus of the Saccharomyces cerevisiae GTPase Snu114 during spliceosome activation. Genetics 2005;170:1063-80.
12. Guion-Almeida ML, Zechi-Ceide RM, Vendramini S, Tabith Junior A. A new syndrome with growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate. Clin Dysmorphol 2006;15:171-4.
13. Guion-Almeida ML, Vendramini-Pittoli S, Passos-Bueno MR, Zechi-Ceide RM. Mandibulofacial syndrome with growth and mental retardation, microcephaly, ear anomalies with skin tags, and cleft palate in a mother and her son: autosomal dominant or X-linked syndrome? Am J Med Genet A 2009;149A:2762-4.
14. Wieczorek D, Gener B, Gonzalez MJ, Seland S, Fischer S, Hehr U, Kuechler A, Hoefsloot LH, de Leeuw N, Gillessen-Kaesbach G, Lohmann DR. Microcephaly, microtia, preauricular tags, choanal atresia and developmental delay in three unrelated patients: a mandibulofacial dysostosis distinct from Treacher Collins syndrome. Am J Med Genet A 2009;149A:837-43.
15. Need AC, Shashi V, Hitomi Y, Schoch K, Shianna KV, McDonald MT, Meisler MH, Goldstein DB. Clinical application of exome sequencing in undiagnosed genetic conditions. J Med Genet 2012;49:353-61.
16. Bernier FP, Caluseriu O, Ng S, Schwartzentruber J, Buckingham KJ, Innes AM, Jabs EW, Innis JW, Schuette JL, Gorski JL, Byers PH, Andelfinger G, Siu V, Lauzon J, Fernandez BA, McMillin M, Scott RH, Racher H, Majewski J, Nickerson DA, Shendure J, Bamshad MJ, Parboosingh JS. Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome. Am J Hum Genet 2012;90:925-33.
17. Brenner M, Johnson AB, Boespflug-Tanguy O, Rodriguez D, Goldman JE, Messing A. Mutations in GFAP, encoding glial fibrillary acidic protein, are associated with Alexander disease. Nat Genet 2001;27:117-20.
18. McCall MA, Gregg RG, Behringer RR, Brenner M, Delaney CL, Galbreath EJ, Zhang CL, Pearce RA, Chiu SY, Messing A. Targeted deletion in astrocyte intermediate filament (Gfap) alters neuronal physiology. Proc Natl Acad Sci USA 1996;93:6361-6.
19. Panizzi JR, Becker-Heck A, Castleman VH, Al-Mutairi DA, Liu Y, Loges NT, Pathak N, Austin-Tse C, Sheridan E, Schmidts M, Olbrich H, Werner C, Haffner K, Hellman N, Chodhari R, Gupta A, Kramer-Zucker A, Olale F, Burdine RD, Schier AF, O'Callaghan C, Chung EM, Reinhardt R, Mitchison HM, King SM, Omran H, Drummond IA. CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms. Nat Genet 2012;44:714-9.
20. Jongmans MC, Admiraal RJ, van der Donk KP, Vissers LE, Baas AF, Kapusta L, van Hagen JM, Donnai D, de Ravel TJ, Veltman JA, Geurts van Kessel A, De Vries BB, Brunner HG, Hoefsloot LH, van Ravenswaaij CM. CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene. J Med Genet 2006;43:306-14.
21. Lalani SR, Safiullah AM, Fernbach SD, Harutyunyan KG, Thaller C, Peterson LE, McPherson JD, Gibbs RA, White LD, Hefner M, Davenport SL, Graham JM, Bacino CA, Glass NL, Towbin JA, Craigen WJ, Neish SR, Lin AE, Belmont JW. Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation. Am J Hum Genet 2006;78:303-14.
22. Marsh AJ, Wellesley D, Burge D, Ashton M, Browne C, Dennis NR, Temple K. Interstitial deletion of chromosome 17 (del(17)(q22q23.3)) confirms a link with. J Med Genet 2000;37:701-4.
23. Park JP, Moeschler JB, Berg SZ, Bauer RM, Wurster-Hill DH. A unique de novo interstitial deletion del(17)(q21.3q23) in a phenotypically abnormal infant. Clin Genet 1992;41:54-6.
24. Dallapiccola B, Mingarelli R, Digilio C, Obregon MG, Giannotti A. Interstitial deletion del(17) (q21.3q23 or 24.2) syndrome. Clin Genet 1993;43:54-5.
25. Wieczorek D, Shaw-Smith C, Kohlhase J, Schmitt W, Buiting K, Coffey A, Howard E, Hehr U, Gillessen-Kaesbach G. Esophageal atresia, hypoplasia of zygomatic complex, microcephaly, cup-shaped ears, congenital heart defect, and mental retardation-new MCA/MR syndrome in two affected sibs and a mildly affected mother? Am J Med Genet A 2007;143A:1135-42.
26. Ozkan KU, Coban YK, Uzel M, Ergun M, Oksuz H. Pierre Robin sequence with esophageal atresia and congenital radioulnar synostosis. Cleft Palate Craniofac J 2006;43:317-20.
27. McKie AB, McHale JC, Keen TJ, Tarttelin EE, Goliath R, van Lith-Verhoeven JJ, Greenberg J, Ramesar RS, Hoyng CB, Cremers FP, Mackey DA, Bhattacharya SS, Bird AC, Markham AF, Inglehearn CF. Mutations in the pre-mRNA splicing factor gene PRPC8 in autosomal dominant retinitis pigmentosa (RP13). Hum Mol Genet 2001;10:1555-62.
28. Vithana EN, Abu-Safieh L, Allen MJ, Carey A, Papaioannou M, Chakarova C, Al-Maghtheh M, Ebenezer ND, Willis C, Moore AT, Bird AC, Hunt DM, Bhattacharya SS. A human homolog of yeast pre-mRNA splicing gene, PRP31, underlies autosomal dominant retinitis pigmentosa on chromosome 19q13.4 (RP11). Mol Cell 2001;8:375-81.
29. Tanackovic G, Ransijn A, Thibault P, Abou Elela S, Klinck R, Berson EL, Chabot B, Rivolta C. PRPF mutations are associated with generalized defects in spliceosome formation and pre-mRNA splicing in patients with retinitis pigmentosa. Hum Mol Genet 2011;20:2116-30.
30. Edery P, Marcaillou C, Sahbatou M, Labalme A, Chastang J, Touraine R, Tubacher E, Senni F, Bober MB, Nampoothiri S, Jouk PS, Steichen E, Berland S, Toutain A, Wise CA, Sanlaville D, Rousseau F, Clerget-Darpoux F, Leutenegger AL. Association of TALS developmental disorder with defect in minor splicing component U4atac snRNA. Science 2011;332:240-3.
31. Konig H, Matter N, Bader R, Thiele W, Muller F. Splicing segregation: the minor spliceosome acts outside the nucleus and controls cell proliferation. Cell 2007;131:718-29.
32. Johnson TL, Vilardell J. Regulated pre-mRNA splicing: The ghostwriter of the eukaryotic genome. Biochim Biophys Acta 2012;1819:538-45.
33. Watanabe H, Shionyu M, Kimura T, Kimata K. Splicing factor 3b subunit 4 binds BMPR-IA and inhibits osteochondral cell differentiation. J Biol Chem 2007;282:20728-38.