Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome

Journal of Medical Genetics

Volumn 50, Issue 3, 2013, Pages 174-186

  Gordon, Christopher T ^a   Vuillot, Alice ^a   Marlin, Sandrine ^a   Gerkes, Erica ^b   Henderson, Alex ^c   AlKindy, Adila ^d   Holder Espinasse, Muriel ^e   Park, Sarah S ^f   Omarjee, Asma ^g   Sanchis Borja, Mateo ^a   Ben Bdira, Eya ^a   Oufadem, Myriam ^a   Sikkema Raddatz, Birgit ^c   Stewart, Alison ^h   Palmer, Rodger ⁱ   McGowan, Ruth ^j   Petit, Florence ^f   Delobel, Bruno ^k   Speicher, Michael R ^l   Aurora, Paul ⁱ   Kilner, David ⁱ   Pellerin, Philippe ^f   Simon, Marie ^m   Bonnefont, Jean Paul ^m   Tobias, Edward S ⁿ   García Miñaúr, Sixto ^o   Bitner Glindzicz, Maria ^p   Lindholm, Pernille ^q   Meijer, Brigitte A ^r   Abadie, Véronique ^s   Denoyelle, Françoise ^t   Vazquez, Marie Paule ^m,s,u   Rotky Fast, Christa ^l   Couloigner, Vincent ^m   Pierrot, Sébastien ^m   Manach, Yves ^m   Breton, Sylvain ^m,s   Hendriks, Yvonne M C ^v   Munnich, Arnold ^a,m   Jakobsen, Linda ^q   Kroisel, Peter ^l   Lin, Angela ^w   Kaban, Leonard B ^w   Basel Vanagaite, Lina ^x,y   Wilson, Louise ⁱ   Cunningham, Michael L ^g,z   Lyonnet, Stanislas ^a,m   Amiel, Jeanne ^a,m   more..

^a IMAGINE INSTITUTE   (France)

^b ARMAND TROUSSEAU HOSPITAL   (France)

^c UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^d NEWCASTLE UPON TYNE HOSPITALS NHS FOUNDATION TRUST   (United Kingdom)

^e SULTAN QABOOS UNIVERSITY HOSPITAL   (Oman)

^f LILLE UNIVERSITY HOSPITAL   (France)

^g SEATTLE CHILDREN S RESEARCH INSTITUTE   (United States)

^h West Midlands Regional Clinical Genetics Service   (United Kingdom)

ⁱ GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^j North of Scotland Regional Genetics Service   (United Kingdom)

^k HÔPITAL SAINT VINCENT DE PAUL   (France)

^l MEDICAL UNIVERSITY OF GRAZ   (Austria)

^m HÔPITAL NECKER ENFANTS MALADES   (France)

ⁿ UNIVERSITY OF GLASGOW   (United Kingdom)

^o HOSPITAL UNIVERSITARIO LA PAZ   (Spain)

^p UNIVERSITY COLLEGE LONDON   (United Kingdom)

^q Rigshospitalet   (Denmark)

^r Copenhagen University Hospital ^*  (Netherlands)

^s UNIVERSITÉ PARIS DESCARTES   (France)

^t INSERM   (France)

^u CENTRE DE RECHERCHE DES CORDELIERS   (France)

^v VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^w MASSACHUSETTS GENERAL HOSPITAL   (United States)

^x RABIN MEDICAL CENTER   (Israel)

^y TEL AVIV UNIVERSITY   (Israel)

^z UNIVERSITY OF WASHINGTON   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ENDOTHELIN RECEPTOR; GUANINE NUCLEOTIDE BINDING PROTEIN; GUANINE NUCLEOTIDE BINDING PROTEIN ALPHA INHIBITING ACTIVITY POLYPEPTIDE 3; PHOSPHOLIPASE C BETA4; UNCLASSIFIED DRUG;

ADULT; APNEA; ARTICLE; AURICULOCONDYLAR SYNDROME; CHILD; CLINICAL ARTICLE; COMPUTER ASSISTED TOMOGRAPHY; CRANIOFACIAL DEVELOPMENT; CRANIOFACIAL MALFORMATION; EXOME; FEMALE; GENE DELETION; GENE SEQUENCE; HUMAN; INHERITANCE; MALE; MICROGNATHIA; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PEDIGREE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM;

ADULT; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; EAR; EAR DISEASES; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GTP-BINDING PROTEIN ALPHA SUBUNITS, GI-GO; HUMANS; INFANT; MALE; MUTATION; PEDIGREE; PHOSPHOLIPASE C BETA; POLYMERASE CHAIN REACTION;

EID: 84874772539     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2012-101331     Document Type: Article

References (65)

1. Kokitsu-Nakata NM, Zechi-Ceide RM, Vendramini-Pittoli S, Tavares VL Romanelli, Passos-Bueno MR, Guion-Almeida ML. Auriculo-condylar syndrome. Confronting a diagnostic challenge. Am J Med Genet A 2011;158A:59-65.
2. Masotti C, Oliveira KG, Poerner F, Splendore A, Souza J, Rda S Freitas, Zechi-Ceide R, Guion-Almeida ML, Passos-Bueno MR. Auriculo-condylar syndrome: mapping of a first locus and evidence for genetic heterogeneity. Eur J Hum Genet 2008;16:145-52.
3. Storm AL, Johnson JM, Lammer E, Green GE, Cunniff C. Auriculo-condylar syndrome is associated with highly variable ear and mandibular defects in multiple kindreds. Am J Med Genet A 2005;138A:141-5.
4. Ozturk S, Sengezer M, Isik S, Gul D, Zor F. The correction of auricular and mandibular deformities in auriculo-condylar syndrome. J Craniofac Surg 2005;16:489-92.
5. Guion-Almeida ML, Zechi-Ceide RM, Vendramini S, Kokitsu-Nakata NM. Auriculo-condylar syndrome: additional patients. Am J Med Genet 2002;112:209-14.
6. Divizia MT, Cordone A, Bado M, Rosaia L, Silengo M Cirillo, Ravazzolo R, Lerone M. Auriculo-condylar syndrome or new syndrome? Clin Dysmorphol 2002;11:143-4.
7. Priolo M, Lerone M, Rosaia L, Calcagno EP, Sadeghi AK, Ghezzi F, Ravazzolo R, Silengo M. Question mark ears, temporo-mandibular joint malformation and hypotonia: auriculo-condylar syndrome or a distinct entity? Clin Dysmorphol 2000;9:277-80.
8. Guion-Almeida ML, Kokitsu-Nakata NM, Zechi-Ceide RM, Vendramini S. Auriculo-condylar syndrome: further evidence for a new disorder. Am J Med Genet 1999;86:130-3.
9. Gerkes EH, van Ravenswaaij CM, van Essen AJ. Question mark ears and post-auricular tags. Eur J Med Genet 2008;51:264-7.
10. Al-Qattan MM. Cosman (question mark) ear: congenital auricular cleft between the fifth and sixth hillocks. Plast Reconstr Surg 1998;102:439-41.
11. Takato T, Takeda H, Kamei M, Uchiyama K. The question mark ear congenital auricular cleft a familial case Ann Plast Surg 1989;22:69-73.
12. Fumiiri M, Hyakusoku H. Congenital auricular cleft. Plast Reconstr Surg 1983;71:249-50.
13. Uuspaa V. Combined bilateral external ear deformity and hypoplastic mandible. Case report. Scand J Plast Reconstr Surg 1978;12:165-7.
14. Jampol M, Repetto G, Keith DA, Curtin H, Remensynder J, Holmes LB. New syndrome? Prominent, constricted ears with malformed condyle of the mandible. Am J Med Genet 1998;75:449-52.
15. Erlich MS, Cunningham ML, Hudgins L. Transmission of the dysgnathia complex from mother to daughter. Am J Med Genet 2000;95:269-74.
16. Posso CM, Wolff GA, Suarez LD. Question mark ear deformity: a combined method for correction. Aesthetic Plast Surg 2011;35:646-9.
17. Pan B, Jiang H, Zhao Y, Lin L, Guo D, Zhuang H. Clinical analysis, repair and aetiology of question mark ear. J Plast Reconstr Aesthet Surg 2010;63:28-35.
18. Shkalim V, Eliaz N, Linder N, Merlob P, Basel-Vanagaite L. Autosomal dominant isolated question mark ear. Am J Med Genet A 2008;146A:2280-3.
19. Vayvada H, Karaca C, Menderes A, Yilmaz M. Question mark ear deformity and a modified surgical correction method: a case report. Aesthetic Plast Surg 2005;29:251-4; discussion 5.
20. Brodovsky S, Westreich M. Question mark ear: a method for repair. Plast Reconstr Surg 1997;100:1254-7.
21. Cosman B, Bellin H, Crikelair GF. The Question Mark ear. Plast Reconstr Surg 1970;46:454-7.
22. Baker PA, Aftimos S, Anderson BJ. Airway management during an EXIT procedure for a fetus with dysgnathia complex. Paediatr Anaesth 2004;14:781-6.
23. Greig AV, Podda S, Thorne CH, McCarthy JG. The question mark ear in patients with mandibular hypoplasia. Plast Reconstr Surg 2012;129:368e-9e.
24. Rieder MJ, Green GE, Park SS, Stamper BD, Gordon CT, Johnson JM, Cunniff CM, Smith JD, Emery SB, Lyonnet S, Amiel J, Holder M, Heggie AA, Bamshad MJ, Nickerson DA, Cox TC, Hing AV, Horst JA, Cunningham ML. A human homeotic transformation resulting from mutations in PLCB4 and GNAI3 causes auriculocondylar syndrome. Am J Hum Genet 2012;90:907-14.
25. Stuffken MJ, Tuinzing DB. Dysgnathia complex, a rare deviation. Ned Tijdschr Tandheelkd 2008;115:394-6.
26. Vincent RW, Ryan RF, Longenecker CG. Malformation of ear associated with urogenital anomalies. Plast Reconstr Surg Transplant Bull 1961;28:214-20.
27. Park C. Correction of the unilateral question mark ear. Plast Reconstr Surg 1998;101:1620-3.
28. Clouthier DE, Garcia E, Schilling TF. Regulation of facial morphogenesis by endothelin signaling: insights from mice and fish. Am J Med Genet A 2010;152A:2962-73.
29. Walker MB, Miller CT, Swartz ME, Eberhart JK, Kimmel CB. Phospholipase C, beta 3 is required for Endothelin1 regulation of pharyngeal arch patterning in zebrafish. Dev Biol 2007;304:194-207.
30. McGowan R, Murday V, Kinning E, Garcia S, Koppel D, Whiteford M. Novel features in auriculo-condylar syndrome. Clin Dysmorphol 2011;20:1-10.
31. Soundararajan M, Willard FS, Kimple AJ, Turnbull AP, Ball LJ, Schoch GA, Gileadi C, Fedorov OY, Dowler EF, Higman VA, Hutsell SQ, Sundstrom M, Doyle DA, Siderovski DP. Structural diversity in the RGS domain and its interaction with heterotrimeric G protein alpha-subunits. Proc Natl Acad Sci USA 2008;105:6457-62.
32. Waldo GL, Ricks TK, Hicks SN, Cheever ML, Kawano T, Tsuboi K, Wang X, Montell C, Kozasa T, Sondek J, Harden TK. Kinetic scaffolding mediated by a phospholipase C-beta and Gq signaling complex. Science 2010;330:974-80.
33. Hunter A, Frias JL, Gillessen-Kaesbach G, Hughes H, Jones KL, Wilson L. Elements of morphology: standard terminology for the ear. Am J Med Genet A 2009;149A: 40-60.
34. Conrad DF, Bird C, Blackburne B, Lindsay S, Mamanova L, Lee C, Turner DJ, Hurles ME. Mutation spectrum revealed by breakpoint sequencing of human germline CNVs. Nat Genet 2010;42:385-91.
35. Dettlaff-Swiercz DA, Wettschureck N, Moers A, Huber K, Offermanns S. Characteristic defects in neural crest cell-specific Galphaq/Galpha11- and Galpha12/ Galpha13-deficient mice. Dev Biol 2005;282:174-82.
36. Ivey K, Tyson B, Ukidwe P, McFadden DG, Levi G, Olson EN, Srivastava D, Wilkie TM. Galphaq and Galpha11 proteins mediate endothelin-1 signaling in neural crest-derived pharyngeal arch mesenchyme. Dev Biol 2003;255:230-7.
37. Offermanns S, Zhao LP, Gohla A, Sarosi I, Simon MI, Wilkie TM. Embryonic cardiomyocyte hypoplasia and craniofacial defects in G alpha q/G alpha 11-mutant mice. EMBO J 1998;17:4304-12.
38. Sato T, Kawamura Y, Asai R, Amano T, Uchijima Y, Dettlaff-Swiercz DA, Offermanns S, Kurihara Y, Kurihara H. Recombinase-mediated cassette exchange reveals the selective use of Gq/G11-dependent and -independent endothelin 1/endothelin type A receptor signaling in pharyngeal arch development. Development 2008;135:755-65.
39. Birnbaumer L, Zurita AR. On the roles of Mg in the activation of G proteins. J Recept Signal Transduct Res 2010;30:372-5.
40. Nezarati MM, Aftimos S. Microtia, severe micrognathia and absent ossicles: auriculo-condylar syndrome or new entity? Clin Dysmorphol 2007;16:9-13.
41. Gaultier C, Amiel J, Dauger S, Trang H, Lyonnet S, Gallego J, Simonneau M. Genetics and early disturbances of breathing control. Pediatr Res 2004;55:729-33.
42. Nagano K, Fukami K, Minagawa T, Watanabe Y, Ozaki C, Takenawa T. A novel phospholipase C delta4 (PLCdelta4) splice variant as a negative regulator of PLC. J Biol Chem 1999;274:2872-9.
43. Lalani SR, Thakuria JV, Cox GF, Wang X, Bi W, Bray MS, Shaw C, Cheung SW, Chinault AC, Boggs BA, Ou Z, Brundage EK, Lupski JR, Gentile J, Waisbren S, Pursley A, Ma L, Khajavi M, Zapata G, Friedman R, Kim JJ, Towbin JA, Stankiewicz P, Schnittger S, Hansmann I, Ai T, Sood S, Wehrens XH, Martin JF, Belmont JW, Potocki L. 20p12.3 microdeletion predisposes to Wolff-Parkinson-White syndrome with variable neurocognitive deficits. J Med Genet 2009;46:168-75.
44. Anad F, Burn J, Matthews D, Cross I, Davison BC, Mueller R, Sands M, Lillington DM, Eastham E. Alagille syndrome and deletion of 20p. J Med Genet 1990;27:729-37.
45. Shohat M, Herman V, Melmed S, Neufeld N, Schreck R, Pulst S, Graham JM Jr, Rimoin DL, Korenberg JR. Deletion of 20p 11.23--pter with normal growth hormone-releasing hormone genes. Am J Med Genet 1991;39:56-63.
46. Robert ML, Lopez T, Crolla J, Huang S, Owen C, Burvill-Holmes L, Stumper O, Turnpenny PD. Alagille syndrome with deletion 20p12.2-p12.3 and hypoplastic left heart. Clin Dysmorphol 2007;16:241-6.
47. Kamath BM, Thiel BD, Gai X, Conlin LK, Munoz PS, Glessner J, Clark D, Warthen DM, Shaikh TH, Mihci E, Piccoli DA, Grant SF, Hakonarson H, Krantz ID, Spinner NB. SNP array mapping of chromosome 20p deletions: genotypes, phenotypes, and copy number variation. Hum Mutat 2009;30:371-8.
48. Le Gloan L, Pichon O, Isidor B, Boceno M, Rival JM, David A, Le Caignec C.A 8.26Mb deletion in 6q16 and a 4.95Mb deletion in 20p12 including JAG1 and BMP2 in a patient with Alagille syndrome and Wolff-Parkinson-White syndrome. Eur J Med Genet 2008;51:651-7.
49. Cheong E, Zheng Y, Lee K, Lee J, Kim S, Sanati M, Lee S, Kim YS, Shin HS. Deletion of phospholipase C beta4 in thalamocortical relay nucleus leads to absence seizures. Proc Natl Acad Sci USA 2009;106:21912-17.
50. Jiang H, Lyubarsky A, Dodd R, Vardi N, Pugh E, Baylor D, Simon MI, Wu D. Phospholipase C beta 4 is involved in modulating the visual response in mice. Proc Natl Acad Sci USA 1996;93:14598-601.
51. Kano M, Hashimoto K, Watanabe M, Kurihara H, Offermanns S, Jiang H, Wu Y, Jun K, Shin HS, Inoue Y, Simon MI, Wu D. Phospholipase cbeta4 is specifically involved in climbing fiber synapse elimination in the developing cerebellum. Proc Natl Acad Sci USA 1998;95:15724-9.
52. Kim D, Jun KS, Lee SB, Kang NG, Min DS, Kim YH, Ryu SH, Suh PG, Shin HS. Phospholipase C isozymes selectively couple to specific neurotransmitter receptors. Nature 1997;389:290-3.
53. Xue T, Do MT, Riccio A, Jiang Z, Hsieh J, Wang HC, Merbs SL, Welsbie DS, Yoshioka T, Weissgerber P, Stolz S, Flockerzi V, Freichel M, Simon MI, Clapham DE, Yau KW. Melanopsin signalling in mammalian iris and retina. Nature 2011;479:67-73.
54. Ikeda M, Hirono M, Sugiyama T, Moriya T, Ikeda-Sagara M, Eguchi N, Urade Y, Yoshioka T. Phospholipase C-beta4 is essential for the progression of the normal sleep sequence and ultradian body temperature rhythms in mice. PLoS One 2009;4:e7737.
55. Shin J, Gireesh G, Kim SW, Kim DS, Lee S, Kim YS, Watanabe M, Shin HS. Phospholipase C beta 4 in the medial septum controls cholinergic theta oscillations and anxiety behaviors. J Neurosci 2009;29:15375-85.
56. Lee S, Ahmed T, Kim H, Choi S, Kim DS, Kim SJ, Cho J, Shin HS. Bidirectional modulation of fear extinction by mediodorsal thalamic firing in mice. Nat Neurosci 2012;15:308-14.
57. Wennerberg K, Rossman KL, Der CJ. The Ras superfamily at a glance. J Cell Sci 2005;118:843-6.
58. Feig LA, Cooper GM. Inhibition of NIH 3T3 cell proliferation by a mutant ras protein with preferential affinity for GDP. Mol Cell Biol 1988;8:3235-43.
59. Feig LA. Tools of the trade: use of dominant-inhibitory mutants of Ras-family GTPases. Nat Cell Biol 1999;1:E25-7.
60. Barren B, Artemyev NO. Mechanisms of dominant negative G-protein alpha subunits. J Neurosci Res 2007;85:3505-14.
61. Dauwerse JG, Dixon J, Seland S, Ruivenkamp CA, van Haeringen A, Hoefsloot LH, Peters DJ, Boers AC, Daumer-Haas C, Maiwald R, Zweier C, Kerr B, Cobo AM, Toral JF, Hoogeboom AJ, Lohmann DR, Hehr U, Dixon MJ, Breuning MH, Wieczorek D. Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome. Nat Genet 2011;43:20-2.
62. Cote JF, Vuori K. GEF what? Dock180 and related proteins help Rac to polarize cells in new ways. Trends Cell Biol 2007;17:383-93.
63. Shaheen R, Faqeih E, Sunker A, Morsy H, Al-Sheddi T, Shamseldin HE, Adly N, Hashem M, Alkuraya FS. Recessive mutations in DOCK6, encoding the guanidine nucleotide exchange factor DOCK6, lead to abnormal actin cytoskeleton organization and Adams-Oliver syndrome. Am J Hum Genet 2011;89: 328-33.
64. Yatsenko SA, Kruer MC, Bader PI, Corzo D, Schuette J, Keegan CE, Nowakowska B, Peacock S, Cai WW, Peiffer DA, Gunderson KL, Ou Z, Chinault AC, Cheung SW. Identification of critical regions for clinical features of distal 10q deletion syndrome. Clin Genet 2009;76:54-62.
65. 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.