Mutational spectrum of the oral-facial-digital type I syndrome: A study on a large collection of patients

Human Mutation

Volumn 29, Issue 10, 2008, Pages 1237-1246

  Prattichizzo, Clelia ^a   Macca, Marina ^a,b   Novelli, Valeria ^a   Giorgio, Giovanna ^a   Barra, Adriano ^a   Franco, Brunella ^a,b   Abdulla, F ^c   Abramowicz, M ^d   Amy, S ^e   Schafer, I ^e   Bankier, A ^f   White, S ^f   Barcina, M G ^g   Bartoshesky, L E ^h   Jenny, K ^h   Beemer, F A ⁱ   Benke, P ^j   Betz, R C ^k   Bianchini, G ^l   Garavelli, L ^l   Bigoni, S ^m   Bird, L ⁿ   Chibuk, J ⁿ   Masser Frye, D ⁿ   Brunetti, N ^b   Scarcella, A ^b   Brunner, H G ^o   Burn, J ^p   Carmi, R ^q   Castellan, C ^r   Castelluccio, P ^s   Castle, B ^t   Chiong, M A ^u   Cutiongco, E M ^u   Collins, F ^v   Couchon, E ^w   Curry, A ^w   Pastore, M ^w   Curry, C ^x   Swenerton, A ^x   Treisman, T ^x   Dean, J ^y   Devriendt, K ^z   Matthijs, G ^z   Dunlap, J W ^aa   Shashi, V ^aa   Elcioglu, N ^ab   Farndon, P ^ac   Ferrero, G B ^ad   Ferrier, R ^ae   Foulds, N ^t   Friedman, J M ^af   Gal, A ^ag   Orth, U ^ag   Gardner, M ^f   Gerola, O ^ah   Gillessen Kaesbach, G ^ai   Giuliano, F ^aj   Turc Carel, C ^aj   Godde E ^ak   Graber, V ^al   Graham, G E ^am   Gurrieri, F ^an   Harbour, L ^ao   Henderson, A ^p   Jones, E ^p   Heran, H ^ao   Homfray, T ^ap   Taylor, R ^ap   Iwarsson, E ^aq   Jensen, P ^ar   Jezela Stanek, A ^as   Joss, S ^at   Taylor, G ^at   Keeling, S L ^f   Klatt, R ^au   Teebi, A ^au   Klehr Martinelli, M ^av   Kotzot, D ^aw   Lees, M ^ax   Loughlin, S ^ax   Lhotta, K ^ay   Macdonald, F ^ac   Mari, F ^az   Renieri, A ^az   Marlin, S ^ba   McGaughran, J ^bb   McKenzie, F ^bb   McLeod, D R ^bc   Megarbane, A ^bd   Mota, C R ^be   Mucke, J ^bf   Tzschach, A ^bf   Obersztyn, E ^bg   Okhowat, R ^al   Shinzel, A ^al   Pfau, R ^bh   Pober, B ^bi   Raymond, F L ^bj   Reich, E ^bk   Reimschisel, T ^bl   Robertson, J ^bm   Roggenbuck, J ^bn   Sabato, A ^bo   Sanchez Del Pozo, J ^bp   Schell Apacik, C ^bq   Schwaab, E ^br   Selicorni, A ^bs   Sell, S ^bt   Smithson, S ^bu   Stray Pedersen, A ^bv   Tan, T ^f   Thiese, H ^bw   Tol, J ^bx   Toprak, O ^by   Trump, D ^bj   Whittaker, J ^bj   Williams, D ^ac   Zelante, L ^bz   Zoll, B ^ca   more..

^a TELETHON INSTITUTE OF GENETICS AND MEDICINE TIGEM   (Italy)

^b UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^c SALMANIYA MEDICAL COMPLEX   (Bahrain)

^d UNIVERSITÉ LIBRE DE BRUXELLES   (Belgium)

^e LERNER RESEARCH INSTITUTE   (United States)

^f ROYAL CHILDREN'S HOSPITAL   (Australia)

^g HOSPITAL DE BASURTO   (Spain)

^h NEMOURS ALFRED I DUPONT HOSPITAL FOR CHILDREN   (United States)

ⁱ UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^j MEMORIAL REGIONAL HOSPITAL   (United States)

^k UNIVERSITY OF BONN   (Germany)

^l S MARIA NUOVA HOSPITAL   (Italy)

^m UNIVERSITY HOSPITAL OF FERRARA   (Italy)

ⁿ UNIVERSITY OF CALIFORNIA   (United States)

^o RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^p INSTITUTE OF HUMAN GENETICS   (United Kingdom)

^q BEN GURION UNIVERSITY OF THE NEGEV   (Israel)

^r Azienda Sanitaria Bolzano   (Italy)

^s CARDARELLI HOSPITAL   (Italy)

^t UNIVERSITY HOSPITAL SOUTHAMPTON NHS FOUNDATION TRUST   (United Kingdom)

^u UNIVERSITY OF THE PHILIPPINES MANILA   (Philippines)

^v CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

^w NATIONWIDE CHILDREN S HOSPITAL   (United States)

^x CHILDREN S HOSPITAL CENTRAL CALIFORNIA   (United States)

^y NHS GRAMPIAN   (United Kingdom)

^z Center for Human Genetics   (Belgium)

^aa WAKE FOREST SCHOOL OF MEDICINE   (United States)

^ab MARMARA UNIVERSITY SCHOOL OF MEDICINE   (Turkey)

^ac BIRMINGHAM WOMEN S HOSPITAL   (United Kingdom)

^ad UNIVERSITY OF TURIN   (Italy)

^ae UNIVERSITY OF CALGARY   (Canada)

^af BC CHILDREN S HOSPITAL   (Canada)

^ag UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^ah FONDAZIONE IRCCS POLICLINICO SAN MATTEO   (Italy)

^ai UNIVERSITY HOSPITAL ESSEN   (Germany)

^aj UNIVERSITY HOSPITAL OF NICE   (France)

^ak UNIVERSITY OF WITTEN HERDECKE   (Germany)

^al UNIVERSITY OF ZURICH   (Switzerland)

^am CHILDREN S HOSPITAL OF EASTERN ONTARIO   (Canada)

^an CATHOLIC UNIVERSITY   (Italy)

^ao CHILDREN S AND WOMEN S HEALTH CENTRE OF BRITISH COLUMBIA   (Canada)

^ap ST GEORGE'S UNIVERSITY OF LONDON   (United Kingdom)

^aq KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^ar AARHUS UNIVERSITY HOSPITAL   (Denmark)

^as CHILDREN'S MEMORIAL HEALTH INSTITUTE   (Poland)

^at ST JAMES S UNIVERSITY HOSPITAL   (United Kingdom)

^au HOSPITAL FOR SICK CHILDREN   (Canada)

^av Prenatal Medicine Molecular Genetics Laboratory   (Germany)

^aw UNIVERSITY OF MUNICH   (Germany)

^ax GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^ay UNIVERSITY HOSPITAL INNSBRUCK   (Austria)

^az UNIVERSITY HOSPITAL OF SIENA   (Italy)

^ba ARMAND TROUSSEAU HOSPITAL   (France)

^bb ROYAL CHILDREN'S HOSPITAL   (Australia)

^bc ALBERTA CHILDREN'S HOSPITAL   (Canada)

^bd SAINT JOSEPH UNIVERSITY   (Lebanon)

^be D Jacinto de Magalhaes Institute of Medical Genetics   (Portugal)

^bf St Ingbert County Hospital   (Germany)

^bg INSTITUTE OF MOTHER AND CHILD   (Poland)

^bh CHILDREN S MEDICAL CENTER   (United States)

^bi YALE UNIVERSITY   (United States)

^bj ADDENBROOKE S HOSPITAL   (United Kingdom)

^bk NEW YORK UNIVERSITY SCHOOL OF MEDICINE   (United States)

^bl WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^bm HENRY FORD HOSPITAL   (United States)

^bn CHILDREN S HOSPITALS AND CLINICS OF MINNESOTA   (United States)

^bo UNIVERSITY OF VERONA   (Italy)

^bp University Hospital   (Spain)

^bq Munich Public Health Research Centre   (Germany)

^br Children's Center Munich ^*

^bs UNIVERSITY OF MILAN   (Italy)

^bt PENN STATE MILTON S HERSHEY MEDICAL CENTER   (United States)

^bu ST MICHAEL'S HOSPITAL   (United Kingdom)

^bv OSLO UNIVERSITY HOSPITAL   (Norway)

^bw CENTER FOR HEALTH STUDIES   (United States)

^bx ERASMUS UNIVERSITY ROTTERDAM   (Netherlands)

^by ATATURK TRAINING AND RESEARCH HOSPITAL   (Turkey)

^bz CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

^ca UNIVERSITY OF GÖTTINGEN   (Germany)

more..

Author keywords

Mutation analysis; OFD1; OFDI; Primary ciliary dysfunction; X linked dominant male lethal

Indexed keywords

CHROMOSOME PROTEIN; PROTEIN OFD1; UNCLASSIFIED DRUG;

ARTICLE; CONTROLLED STUDY; GENE MUTATION; GENETIC ANALYSIS; GENOTYPE; HUMAN; KIDNEY POLYCYSTIC DISEASE; MAJOR CLINICAL STUDY; MISSENSE MUTATION; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; ORAL FACIAL DIGITAL TYPE 1 SYNDROME; PHENOTYPE; PRIORITY JOURNAL; X CHROMOSOME LINKED DISORDER;

EID: 55349129995     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20792     Document Type: Article

References (36)

1. Antonarakis SE. 1998. Recommendations for a nomenclature system for human gene mutations. Nomenclature Working Group. Hum Mutat 11:1-3.
2. Badano JL, Mitsuma N, Beales PL, Katsanis N. 2006. The ciliopathies: an emerging class of human genetic disorders. Annu Rev Genomics Hum Genet 7:1228-1230.
3. Bisgrove BW, Yost HJ. 2006. The roles of cilia in developmental disorders and disease. Development 133:4131-4143.
4. Budny B, Chen W, Omran H, Fliegauf M, Tzschach A, Wisniewska M, Jensen LR, Raynaud M, Shoichet SA, Badura M, Lenzner S, Latos-Bielenska A, Ropers HH. 2006. A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral-facial-digital type I syndrome. Hum Genet 120:171-178.
5. Carrel L, Willard HF. 2005. X-inactivation profile reveals extensive variability in X-linked gene expression in females. Nature 434:400-404.
6. Coll E, Torra R, Pascual J, Botey A, Ara J, Perez L, Ballesta F, Darnell A. 1997. Sporadic orofaciodigital syndrome type 1 presenting as end-stage renal disease. Nephrol Dial Transplant 12:1040-1042.
7. Connacher AA, Forsyth CC, Stewart WK. 1987. Orofaciodigital syndrome type 1 associated with polycystic kidneys and agenesis of the corpus callosum. J Med Genet 24:116-118.
8. de Conciliis L, Marchitiello A, Wapenaar MC, Borsani G, Giglio S, Mariani M, Consalez GG, Zuffardi O, Franco B, Ballabio A, Banfi S. 1998. Characterization of Cxorf5 (71-7A), a novel human cDNA mapping to Xp22 and encoding a protein containing coiled-coil α-helical domains. Genomics 51:243-250.
9. den Dunnen JT, Paalman MH. 2003. Standardizing mutation nomenclature: why bother? Hum Mutat 22:181-182.
10. Doege T, Thuline H, Priest J, Norby D, Bryant J. 1964. Studies of a family with the oral-facial-digital syndrome. N Engl J Med 271:1073-1080.
11. Emes RD, Ponting CP. 2001. A new sequence motif linking lissencephaly, Treacher Collins and oral- facial-digital type 1 syndromes, microtubule dynamics and cell migration. Hum Mol Genet 10:2813-2820.
12. Feather SA, Winyard PJ, Dodd S, Woolf AS. 1997a. Oral-facial-digital syndrome type 1 is another dominant polycystic kidney disease: clinical, radiological and histopathological features of a new kindred. Nephrol Dial Transplant 12:1354-1361.
13. Feather SA, Woolf AS, Donnai D, Malcolm S, Winter RM. 1997b. The oral-facial-digital syndrome type 1 (OFD1), a cause of polycystic kidney disease and associated malformations, maps to Xp22.2-Xp22.3. Hum Mol Genet 6:1163-1167.
14. Ferrante MI, Giorgio G, Feather SA, Bulfone A, Wright V, Ghiani M, Selicorni A, Gammaro L, Scolari F, Woolf AS, Odent S, Le Marec B, Malcolm S, Winter, R, Ballabio A, Franco B. 2001. Identification of the gene for oral-facial-digital type I syndrome. Am J Hum Genet 68:569-576.
15. Ferrante MI, Barra A, Truong JP, Disteche CM, Banfi S, Franco B. 2003. Characterization of the OFD1/Ofd1 genes on the human and mouse sex chromosomes and exclusion of Ofd1 for the Xpl mouse mutant. Genomics 81:560-569.
16. Ferrante MI, Zullo A, Barra A, Bimonte S, Messaddeq N, Studer M, Dolle P, Franco B. 2006. Oral-facial-digital type I protein is required for primary cilia formation and left-right axis specification. Nat Genet 38:112-117.
17. Franco B, Ballabio A. 2006. X-inactivation and human disease: X-linked dominant male-lethal disorders. Curr Opin Genet Dev 16:254-259.
18. Gillerot Y, Heimann M, Fourneau C, Verellen-Dumoulin C, Van Maldergem L. 1993. Oral-facial-digital syndrome type I in a newborn male. Am J Med Genet 46:335-338.
19. Giorgio G, Alfieri M, Prattichizzo C, Zullo A, Cairo S, Franco B. 2007. Functional characterization of the OFD1 protein reveals a nuclear localization and physical interaction with subunits of a chromatin remodeling complex. Mol Biol Cell 18:4397-4404.
20. Goodship J, Platt J, Smith R, Burn J. 1991. A male with type I orofaciodigital syndrome. J Med Genet 28:691-694.
21. Gorlin RJ, Psaume J. 1962. Orofaciodigital dysotosis: a new syndrome. A study of 22 cases. J Pediatr 61:520-530.
22. Gorlin RJ, Cohen Jr MM, Hennekam RCM. 2001. Oral-facial-digital syndromes. Syndromes of the head and neck. New York: Oxford University Press. p 832-843.
23. Gurrieri F, Franco B, Toriello H, Neri G. 2007. Oral -facial-digital syndromes: a review and diagnostic guidelines. Am J Med Genet 143A:3314-3323.
24. Kroutil LC, Register K, Bebenek K, Kunkel TA. 1996. Exonucleolytic proofreading during replication of repetitive DNA. Biochemistry 35:1046-1053.
25. Kunkel TA, Alexander PS. 1986. The base substitution fidelity of eucaryotic DNA polymerases. Mispairing frequencies, site preferences, insertion preferences, and base substitution by dislocation. J Biol Chem 261:160-166.
26. Papillon-Leage M, Psaume J. 1954. Une malformation hereditaire de la muquese buccale: brides et freins anomaux. Revue Stomatol 55:209-227.
27. Rakkolainen A, Ala-Mello S, Kristo P, Orpana A, Jarvela I. 2002. Four novel mutations in the OFD1 (Cxorf5) gene in Finnish patients with oral-facial-digital syndrome 1. J Med Genet 39:292-296.
28. Romio L, Wright V, Price K, Winyard PJ, Donnai D, Porteous ME, Franco B, Giorgio G, Malcolm S, Woolf AS, Feather SA. 2003. OFD1, the gene mutated in oral-facial-digital syndrome type 1, is expressed in the metanephros and in human embryonic renal mesenchymal cells. J Am Soc Nephrol 14:680-689.
29. Romio L, Fry AM, Winyard PJ, Malcolm S, Woolf AS, Feather SA. 2004. OFD1 is a centrosomal/basal body protein expressed during mesenchymal-epithelial transition in human nephrogenesis. J Am Soc Nephrol 15:2556-2568.
30. Salinas C, Pai G, Vera C, Milutinovich J, Hagerty R, Cooper J, Cagna D. 1991. Variability of expression of the orofaciodigital syndrome type 1 in black females: six cases. Am J Med Genet 38:574-582.
31. Thauvin-Robinet C, Cossee M, Cormier-Daire V, Van Maldergem L, Toutain A, Alembik Y, Bieth E, Layet V, Parent P, David A, Goldenberg A, Mortier G, Heron D, Sagot P, Bouvier AM, Huet F, Cusin V, Donzel A, Devys D, Teyssier JR, Faivre L. 2006. Clinical, molecular, and genotype-phenotype correlation studies from 25 cases of oral-facial-digital syndrome type 1: a French and Belgian collaborative study. J Med Genet 43:54-61.
32. Toriello HV. 1988. Heterogeneity and variability in the oral-facial-digital syndromes. Am J Med Genet Suppl 4:149-159.
33. Toriello HV. 1993. Oral-facial-digital syndromes, 1992. Clin Dysmorph 2:95-105.
34. Wahrman J, Berant M, Jacobs J, Aviad I, Ben-Hur N. 1966. The oral-facial-digital syndrome: a male-lethal condition in a boy with 47/xxy chromosomes. Pediatrics 37:812-821.
35. Wettke Schäfer R, Kantner G. 1983. X-linked dominant inherited diseases with lethality in hemizygous males. Hum Genet 64:1-23.
36. Wildeman M, van Ophuizen E, den Dunnen JT, Taschner PEM. 2008. Improving sequence variant descriptions in mutation databases and literature using the Mutalyzer sequence variation nomenclature checker. Hum Mutat 29:6-13.