Sonic hedgehog mutations are an uncommon cause of developmental eye anomalies

American Journal of Medical Genetics, Part A

Volumn 152, Issue 5, 2010, Pages 1310-1313

  Bakrania, Preeti ^a,h   Iseri, Sibel A Ugur ^a   Wyatt, Alexander W ^a   Bunyan, Dave J ^b   Lam, Wayne W K ^c   Salt, Alison ^d,e   Ramsay, Jacqueline ^c   Robinson, David O ^b,f   Ragge, Nicola K ^a,d,g  

^a UNIVERSITY OF OXFORD   (United Kingdom)

^b SALISBURY DISTRICT HOSPITAL   (United Kingdom)

^c WESTERN GENERAL HOSPITAL   (United Kingdom)

^d MOORFIELDS EYE HOSPITAL   (United Kingdom)

^e GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^f UNIVERSITY OF SOUTHAMPTON   (United Kingdom)

^g BIRMINGHAM CHILDREN S HOSPITAL   (United Kingdom)

^h Centre for Therapeutics Discovery   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

SONIC HEDGEHOG PROTEIN;

CASE REPORT; CHILD; CHROMOSOME 7Q; CHROMOSOME DELETION; EYE MALFORMATION; FEMALE; GENE MUTATION; HETEROZYGOSITY; HOLOPROSENCEPHALY; HUMAN; IRIS COLOBOMA; LETTER; MALE; MICROCORNEA; MICROPHTHALMIA; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; RETINA DETACHMENT;

BASE SEQUENCE; DNA MUTATIONAL ANALYSIS; EYE; EYE ABNORMALITIES; FEMALE; GENE DOSAGE; HEDGEHOG PROTEINS; HUMANS; INFANT; INFANT, NEWBORN; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PREGNANCY;

ERINACEIDAE;

EID: 77951735888     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33239     Document Type: Letter

References (20)

1. 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.
2. 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. (Pubitemid 38859223)
3. Dubourg C, Bendavid C, Pasquier L, Henry C, Odent S, David V. 2007. Holoprosencephaly. Orphanet J Rare Dis 2:8.
4. 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.
5. 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.
6. 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.
7. 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.
8. 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. (Pubitemid 30394994)
9. 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. (Pubitemid 34289634)
10. 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.
11. 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. (Pubitemid 36896664)
12. Ma G, Xiao Y, He L. 2008. Recent progress in the study of hedgehog signaling. J Genet Genomics 35:129-137. (Pubitemid 351382028)
13. Ming JE, Muenke M. 2002. Multiple hits during early embryonic development: Digenic diseases and holoprosencephaly. Am J Hum Genet 71:1017-1032. (Pubitemid 35305222)
14. 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.
15. 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. (Pubitemid 32623257)
16. 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. (Pubitemid 27460359)
17. 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.
18. 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. (Pubitemid 36056736)
19. Simpson F, Kerr MC, Wicking C. 2009. Trafficking, development and hedgehog. Mech Dev 126:279-288.
20. 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. (Pubitemid 39372179)