Sonic hedgehog mutations are an uncommon cause of developmental eye anomalies
2010; Wiley; Volume: 152A; Issue: 5 Linguagem: Inglês
10.1002/ajmg.a.33239
ISSN1552-4833
AutoresPreeti Bakrania, Sı̇bel Aylı̇n Uğur İşerı̇, Alexander W. Wyatt, Dave Bunyan, Wayne Lam, Alison Salt, Jacqueline Ramsay, David Robinson, Nicola Ragge,
Tópico(s)Genetic and rare skin diseases.
ResumoAmerican Journal of Medical Genetics Part AVolume 152A, Issue 5 p. 1310-1313 Research Letter Sonic hedgehog mutations are an uncommon cause of developmental eye anomalies†‡ Preeti Bakrania, Preeti Bakrania Department of Physiology, Anatomy and Genetics, University of Oxford, Oxford, UK PB is now based at Centre for Therapeutics Discovery, MRC Technology, London, UK.Search for more papers by this authorSibel A. Ugur Iseri, Sibel A. Ugur Iseri Department of Physiology, Anatomy and Genetics, University of Oxford, Oxford, UKSearch for more papers by this authorAlexander W. Wyatt, Alexander W. Wyatt Department of Physiology, Anatomy and Genetics, University of Oxford, Oxford, UKSearch for more papers by this authorDave J. Bunyan, Dave J. Bunyan Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, Wiltshire, UKSearch for more papers by this authorWayne W.K. Lam, Wayne W.K. Lam Department of Clinical Genetics, Western General Hospital, Edinburgh, UKSearch for more papers by this authorAlison Salt, Alison Salt Department of Paediatrics, Moorfields Eye Hospital, London, UK Wolfson Neurodisability Service, Great Ormond St. Hospital, London, UKSearch for more papers by this authorJacqueline Ramsay, Jacqueline Ramsay Medical Genetics Section, MRC Human Genetics Unit, Western General Hospital, Edinburgh, UKSearch for more papers by this authorDavid O. Robinson, David O. Robinson Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, Wiltshire, UK Human Genetics Division, Southampton University School of Medicine, Southampton, UKSearch for more papers by this authorNicola K. Ragge, Corresponding Author Nicola K. Ragge [email protected] Department of Physiology, Anatomy and Genetics, University of Oxford, Oxford, UK Department of Adnexal Surgery, Moorfields Eye Hospital, London, UK Department of Ophthalmology, Birmingham Children's Hospital, Birmingham, UKDepartment of Physiology, Anatomy and Genetics, Le Gros Clark Building, South Parks Road, Oxford OX1 3QX, UK.Search for more papers by this author Preeti Bakrania, Preeti Bakrania Department of Physiology, Anatomy and Genetics, University of Oxford, Oxford, UK PB is now based at Centre for Therapeutics Discovery, MRC Technology, London, UK.Search for more papers by this authorSibel A. Ugur Iseri, Sibel A. Ugur Iseri Department of Physiology, Anatomy and Genetics, University of Oxford, Oxford, UKSearch for more papers by this authorAlexander W. Wyatt, Alexander W. Wyatt Department of Physiology, Anatomy and Genetics, University of Oxford, Oxford, UKSearch for more papers by this authorDave J. Bunyan, Dave J. Bunyan Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, Wiltshire, UKSearch for more papers by this authorWayne W.K. Lam, Wayne W.K. Lam Department of Clinical Genetics, Western General Hospital, Edinburgh, UKSearch for more papers by this authorAlison Salt, Alison Salt Department of Paediatrics, Moorfields Eye Hospital, London, UK Wolfson Neurodisability Service, Great Ormond St. Hospital, London, UKSearch for more papers by this authorJacqueline Ramsay, Jacqueline Ramsay Medical Genetics Section, MRC Human Genetics Unit, Western General Hospital, Edinburgh, UKSearch for more papers by this authorDavid O. Robinson, David O. Robinson Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, Wiltshire, UK Human Genetics Division, Southampton University School of Medicine, Southampton, UKSearch for more papers by this authorNicola K. Ragge, Corresponding Author Nicola K. Ragge [email protected] Department of Physiology, Anatomy and Genetics, University of Oxford, Oxford, UK Department of Adnexal Surgery, Moorfields Eye Hospital, London, UK Department of Ophthalmology, Birmingham Children's Hospital, Birmingham, UKDepartment of Physiology, Anatomy and Genetics, Le Gros Clark Building, South Parks Road, Oxford OX1 3QX, UK.Search for more papers by this author First published: 13 April 2010 https://doi.org/10.1002/ajmg.a.33239Citations: 26 † Preeti Bakrania and Sibel A. Ugur Iseri contributed equally to this work. ‡ How to cite this article: Bakrania P, Ugur Iseri SA, Wyatt AW, Bunyan DJ, Lam WWK, Salt A, Ramsay J, Robinson DO, Ragge NK. 2010. Sonic hedgehog mutations are an uncommon cause of developmental eye anomalies. Am J Med Genet Part A 152A:1310–1313. Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onEmailFacebookTwitterLinkedInRedditWechat REFERENCES Bakrania P, Efthymiou M, Klein JC, Salt A, Bunyan DJ, Wyatt A, Ponting CP, Martin A, Williams S, Lindley V, Gilmore J, Restori M, Robson AG, Neveu MM, Holder GE, Collin JR, Robinson DO, Farndon P, Johansen-Berg H, Gerrelli D, Ragge NK. 2008. Mutations in BMP4 cause eye, brain, and digit developmental anomalies: Overlap between the BMP4 and hedgehog signaling pathways. Am J Hum Genet 82: 304–319. Dubourg C, Lazaro L, Pasquier L, Bendavid C, Blayau M, Le Duff F, Durou MR, Odent S, David V. 2004. Molecular screening of SHH, ZIC2, SIX3, and TGIF genes in patients with features of holoprosencephaly spectrum: Mutation review and genotype-phenotype correlations. Hum Mutat 24: 43–51. Dubourg C, Bendavid C, Pasquier L, Henry C, Odent S, David V. 2007. Holoprosencephaly. Orphanet J Rare Dis 2: 8. El-Jaick KB, Fonseca RF, Moreira MA, Ribeiro MG, Bolognese AM, Dias SO, Pereira ET, Castilla EE, Orioli IM. 2007. Single median maxillary central incisor: New data and mutation review. Birth Defects Res A Clin Mol Teratol 79: 573–580. Garcia-Barcelo MM, Chi-Hang Lui V, Miao X, So MT, Yuk-yu Leon T, Yuan ZW, Li L, Liu L, Wang B, Sun XBXB, Huang LM, Tou JF, Sau-wai Ngan E, Cherny SS, Chan KW, Lee KH, Wang W, Kak-yuen Wong K, Kwong-hang Tam P. 2008. Mutational analysis of SHH and GLI3 in anorectal malformations. Birth Defects Res A Clin Mol Teratol 82: 644–648. Gestri G, Osborne RJ, Wyatt AW, Gerrelli D, Gribble S, Stewart H, Fryer A, Bunyan DJ, Prescott K, Collin JR, Fitzgerald T, Robinson D, Carter NP, Wilson SW, Ragge NK. 2009. Reduced TFAP2A function causes variable optic fissure closure and retinal defects and sensitizes eye development to mutations in other morphogenetic regulators. Hum Genet 149A: 2141–2146. Ginocchio VM, De Brasi D, Genesio R, Ciccone R, Gimelli S, Fimiani F, de Berardinis T, Nitsch L, Banfi S, Magli A, Della Casa R. 2008. Sonic Hedgehog deletion and distal trisomy 3p in a patient with microphthalmia and microcephaly, lacking cerebral anomalies typical of holoprosencephaly. Eur J Med Genet 51: 658–665. Gripp KW, Wotton D, Edwards MC, Roessler E, Ades L, Meinecke P, Richieri-Costa A, Zackai EH, Massague J, Muenke M, Elledge SJ. 2000. Mutations in TGIF cause holoprosencephaly and link NODAL signalling to human neural axis determination. Nat Genet 25: 205–208. Heussler HS, Suri M, Young ID, Muenke M. 2002. Extreme variability of expression of a sonic hedgehog mutation: Attention difficulties and holoprosencephaly. Arch Dis Child 86: 293–296. Lacbawan F, Solomon BD, Roessler E, El-Jaick K, Domene S, Velez JI, Zhou N, Hadley D, Balog JZ, Long R, Fryer A, Smith W, Omar S, McLean SD, Clarkson K, Lichty A, Clegg NJ, Delgado MR, Levey E, Stashinko E, Potocki L, Vanallen MI, Clayton-Smith J, Donnai D, Bianchi DW, Juliusson PB, Njølstad PR, Brunner HG, Carey JC, Hehr U, Müsebeck J, Wieacker PF, Postra A, Hennekam RC, van den Boogaard MJ, van Haeringen A, Paulussen A, Herbergs J, Schrander-Stumpel CT, Janecke AR, Chitayat D, Hahn J, McDonald-McGinn DM, Zackai EH, Dobyns WB, Muenke M. 2009. Clinical spectrum of SIX3-associated mutations in holoprosencephaly: Correlation between genotype, phenotype and function. J Med Genet 46: 389–398. Lettice LA, Heaney SJ, Purdie LA, Li L, de Beer P, Oostra BA, Goode D, Elgar G, Hill RE, de Graaff E. 2003. A long-range Shh enhancer regulates expression in the developing limb and fin and is associated with preaxial polydactyly. Hum Mol Genet 12: 1725–1735. Ma G, Xiao Y, He L. 2008. Recent progress in the study of hedgehog signaling. J Genet Genomics 35: 129–137. Ming JE, Muenke M. 2002. Multiple hits during early embryonic development: Digenic diseases and holoprosencephaly. Am J Hum Genet 71: 1017–1032. Nanni L, Ming JE, Bocian M, Steinhaus K, Bianchi DW, Die-Smulders C, Giannotti A, Imaizumi K, Jones KL, Campo MD, Martin RA, Meinecke P, Pierpont ME, Robin NH, Young ID, Roessler E, Muenke M. 1999. The mutational spectrum of the sonic hedgehog gene in holoprosencephaly: SHH mutations cause a significant proportion of autosomal dominant holoprosencephaly. Hum Mol Genet 8: 2479–2488. Nanni L, Ming JE, Du Y, Hall RK, Aldred M, Bankier A, Muenke M. 2001. SHH mutation is associated with solitary median maxillary central incisor: A study of 13 patients and review of the literature. Am J Med Genet 102: 1–10. Roessler E, Belloni E, Gaudenz K, Vargas F, Scherer SW, Tsui LC, Muenke M. 1997. Mutations in the C-terminal domain of Sonic Hedgehog cause holoprosencephaly. Hum Mol Genet 6: 1847–1853. Schell-Apacik CC, Ertl-Wagner B, Panzel A, Klausener K, Rausch G, Muenke M, von Voss H, Hehr U. 2009. Maternally inherited heterozygous sequence change in the sonic hedgehog gene in a male patient with bilateral closed-lip schizencephaly and partial absence of the corpus callosum. Am J Med Genet Part A 149A: 1592–1594. Schimmenti LA, de la Cruz J, Lewis RA, Karkera JD, Manligas GS, Roessler E, Muenke M. 2003. Novel mutation in sonic hedgehog in non-syndromic colobomatous microphthalmia. Am J Med Genet Part A 116A: 215–221. Simpson F, Kerr MC, Wicking C. 2009. Trafficking, development and hedgehog. Mech Dev 126: 279–288. Traiffort E, Dubourg C, Faure H, Rognan D, Odent S, Durou MR, David V, Ruat M. 2004. Functional characterization of sonic hedgehog mutations associated with holoprosencephaly. J Biol Chem 279: 42889–42897. Citing Literature Volume152A, Issue5May 2010Pages 1310-1313 ReferencesRelatedInformation
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