HCCS loss-of-function missense mutation in a female with bilateral microphthalmia and sclerocornea: A novel gene for severe ocular malformations?

Molecular Vision

Volumn 13, Issue , 2007, Pages 1475-1482

  Wimplinger, Isabella ^a   Shaw, Gary M ^b   Kutsche, Kerstin ^a  

^a UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^b March of Dimes Birth Defects Foundation   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GLUTAMIC ACID; HOLOCYTOCHROME C SYNTHASE; LYSINE; MITOCHONDRIAL ENZYME; UNCLASSIFIED DRUG;

AMINO ACID SUBSTITUTION; ANIMAL CELL; ANOPHTHALMIA; ARTICLE; CARBON SOURCE; COHORT ANALYSIS; CONFOCAL MICROSCOPY; DNA TRANSFECTION; EYE MALFORMATION; FEMALE; FUNGAL STRAIN; GENE DELETION; GENE SEQUENCE; HETEROZYGOSITY LOSS; HUMAN; HUMAN CELL; HUMAN TISSUE; IMMUNOFLUORESCENCE; MICROPHTHALMIA; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NEWBORN; NONHUMAN; NUCLEOTIDE SEQUENCE; POINT MUTATION; POLYMERASE CHAIN REACTION; POPULATION RESEARCH; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN LOCALIZATION; SACCHAROMYCES CEREVISIAE; SCLEROCORNEA; WILD TYPE; X CHROMOSOME INACTIVATION;

ABNORMALITIES, MULTIPLE; ADENINE; AMINO ACID SUBSTITUTION; ANIMALS; CHO CELLS; CHROMOSOMES, HUMAN, X; COHORT STUDIES; CORNEA; CRICETINAE; CRICETULUS; EYE ABNORMALITIES; FEMALE; GLUTAMIC ACID; GUANINE; HETEROZYGOTE; HUMANS; LYASES; LYSINE; MICROPHTHALMOS; MUTATION, MISSENSE; POINT MUTATION; SACCHAROMYCES CEREVISIAE; SEVERITY OF ILLNESS INDEX; TRANSFECTION; X CHROMOSOME INACTIVATION;

EID: 34548359346     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

References (46)

1. Morrison D, FitzPatrick D, Hanson I, Williamson K, van Heyningen V, Fleck B, Jones I, Chalmers J, Campbell H. National study of microphthalmia, anophthalmia, and coloboma (MAC) in Scotland: investigation of genetic aetiology. J Med Genet 2002; 39:16-22.
2. Lowry RB, Kohut R, Sibbald B, Rouleau J. Anopthalmia and microphthalmia in the Alberta Congenital Anomalies Surveillance System. Can J Ophthalmol 2005; 40:38-44. Erratum in: Can J Ophthalmol. 2006; 41:232.
3. Shaw GM, Carmichael SL, Yang W, Harris JA, Finnell RH, Lammer EJ. Epidemiologic characteristics of anophthalmia and bilateral microphthalmia among 2.5 million births in California, 1989-1997. Am J Med Genet A 2005; 137:36-40.
4. Ton CC, Hirvonen H, Miwa H, Weil MM, Monaghan P, Jordan T, van Heyningen V, Hastie ND, Meijers-Heijboer H, Drechsler M, Royer-Pokora B, Collins F, Swaroop A, Strong EC, Saunders GF. Positional cloning and characterization of a paired box- and homeobox-containing gene from the aniridia region. Cell 1991; 67:1059-74.
5. Glaser T, Jepeal L, Edwards JG, Young SR, Favor J, Maas RL. PAX6 gene dosage effect in a family with congenital cataracts, aniridia, anophthalmia and central nervous system defects. Nat Genet 1994; 7:463-71. Erratum in: Nat Genet 1994; 8:203.
6. Dansault A, David G, Schwartz C, Jaliffa C, Vieira V, de la Houssaye G, Bigot K, Catin F, Tattu L, Chopin C, Halimi P, Roche O, Van Regemorter N, Munier F, Schorderet D, Dufier JL, Marsac C, Ricquier D, Menasche M, Penfornis A, Abitbol M. Three-new PAX6 mutations including one causing an unusual ophthalmic phenotype associated with neurodevelopmental abnormalities. Mol Vis 2007; 13:511-23.
7. Fantes J, Ragge NK, Lynch SA, McGill NI, Collin JR, Howard-Peebles PN, Hay ward C, Vivian AJ, Williamson K, van Heyningen V, FitzPatrick DR. Mutations in SOX2 cause anophthalmia. Nat Genet 2003; 33:461-3.
8. Ragge NK, Lorenz B, Schneider A, Bushby K, de Sanctis L, de Sanctis U, Salt A, Collin JR, Vivian AJ, Free SL, Thompson P, Williamson KA, Sisodiya SM, van Heyningen V, Fitzpatrick DR. SOX2 anophthalmia syndrome. Am J Med Genet A 2005; 135:1-7; discussion8.
9. Williamson KA, Hever AM, Rainger J, Rogers RC, Magee A, Fiedler Z, Keng WT, Sharkey FH, McGill N, Hill CJ, Schneider A, Messina M, Turnpenny PD, Fantes JA, van Heyningen V, FitzPatrick DR. Mutations in SOX2 cause anophthalmia-esophageal-genital (AEG) syndrome. Hum Mol Genet 2006;15:1413-22. Erratum in: Hum Mol Genet. 2006; 15:2030.
10. Kelberman D, Rizzoti K, Avilion A, Bitner-Glindzicz M, Cianfarani S, Collins J, Chong WK, Kirk JM, Achermann JC, Ross R, Carmignac D, Lovell-Badge R, Robinson IC, Dattani MT. Mutations within Sox2/SOX2 are associated with abnormalities in the hypothalamo-pituitary-gonadal axis in mice and humans. J Clin Invest 2006; 116:2442-55.
11. Kondoh H, Uchikawa M, Kamachi Y. Interplay of Pax6 and SOX2 in lens development as a paradigm of genetic switch mechanisms for cell differentiation. Int J Dev Biol 2004; 48:819-27.
12. Ferda Percin E, Ploder LA, Yu JJ, Arici K, Horsford DJ, Rutherford A, Bapat B, Cox DW, Duncan AM, Kalnins VI, Kocak-Altintas A, Sowden JC, Traboulsi E, Sarfarazi M, McInnes RR. Human microphthalmia associated with mutations in the retinal homeobox gene CHX10. Nat Genet 2000; 25:397-401.
13. Voronina VA, Kozhemyakina EA, O'Kernick CM, Kahn ND, Wenger SL, Linberg JV, Schneider AS, Mathers PH. Mutations in the human RAX homeobox gene in a patient with anophthalmia and sclerocornea. Hum Mol Genet 2004; 13:315-22.
14. Ng D, Thakker N, Corcoran CM, Donnai D, Perveen R, Schneider A, Hadley DW, Tifft C, Zhang L, Wilkie AO, van der Smagt JJ, Gorlin RJ, Burgess SM, Bardwell VJ, Black GC, Biesecker LG. Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR. Nat Genet 2004; 36:411-6.
15. Ragge NK, Brown AG, Poloschek CM, Lorenz B, Henderson RA, Clarke MP, Russell-Eggitt I, Fielder A, Gerrelli D, Martinez-Barbera JP, Ruddle P, Hurst J, Collin JR, Salt A, Cooper ST, Thompson PJ, Sisodiya SM, Williamson KA, Fitzpatrick DR, van Heyningen V, Hanson IM. Heterozygous mutations of OTX2 cause severe ocular malformations. Am J Hum Genet 2005; 76:1008-22. Erratum. in: Am J Hum Genet. 2005; 77:334.
16. Hever AM, Williamson KA, van Heyningen V. Developmental malformations of the eye: the role of PAX6, SOX2 and OTX2. Clin Genet 2006; 69:459-70.
17. Kawaguchi R, Yu J, Honda J, Hu J, Whitelegge J, Ping P, Wiita P, Bok D, Sun H. A membrane receptor for retinol binding protein mediates cellular uptake of vitamin A. Science 2007; 315:820-5.
18. Pasutto,F, Sticht H, Hammersen G, Gillessen-Kaesbach G, Fitzpatrick DR, Nurnberg G, Brasch F, Schirmer-Zimmermann H, Tolmie JL, Chitayat D, Houge G, Fernandez-Martinez L, Keating S, Mortier G, Hennekam RC, von der Wense A, Slavotinek A, Meinecke P, Bitoun P, Becker C, Nurnberg P, Reis A, Rauch A. Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation. Am J Hum Genet 2007; 80:550-60.
19. Golzio C, Martinovic-Bouriel J, Thomas S, Mougou-Zrelli S, Grattagliano-Bessieres B, Bonniere M, Delahaye S, Munnich A, Encha-Razavi F, Lyonnet S, Vekemans M, Attie-Bitach T, Etchevers HC. Matthew-Wood syndrome is caused by truncating mutations in the retinol-binding protein receptor gene STRA6. Am J Hum Genet 2007; 80:1179-87.
20. Van den Veyver IB. Microphthalmia with linear skin defects (MLS), Aicardi, and Goltz syndromes: are they related X-linked dominant male-lethal disorders? Cytogenet Genome Res 2002; 99:289-96.
21. Wimplinger I, Morleo M, Rosenberger G, Iaconis D, Orth U, Meinecke P, Lerer I, Ballabio A, Gal A, Franco B, Kutsche K. Mutations of the mitochondrial holocytochrome c-type synthase in X-linked dominant microphthalmia with linear skin defects syndrome. Am J Hum Genet 2006; 79:878-89.
22. Bouillet P, Sapin V, Chazaud C, Messaddeq N, Decimo D, Dolle P, Chambon P. Developmental expression pattern of Stra6, a retinoic acid-responsive gene encoding a new type of membrane protein. Mech Dev 1997; 63:173-86.
23. Bernard DG, Gabilly ST, Dujardin G, Merchant S, Hamel PP. Overlapping specificities of the mitochondrial cytochrome c and c1 heme lyases. J Biol Chem 2003; 278:49732-42.
24. Moraes CT, Diaz F, Barrientos A. Defects in the biosynthesis of mitochondrial heme c and heme a in yeast and mammals. Biochim Biophys Acta 2004; 1659:153-9.
25. Jiang X, Wang X. Cytochrome C-mediated apoptosis. Annu Rev Biochem. 2004; 73:87-106.
26. Allanson J, Richter S. Linear skin defects and congenital microphthalmia: a new syndrome at Xp22.2. J Med Genet 1991; 28:143-4.
27. Lindsay EA, Grillo A, Ferrero GB, Roth EJ, Magenis E, Grompe M, Hulten M, Gould C, Baldini A, Zoghbi HY, Ballabio A. Microphthalmia with linear skin defects (MLS) syndrome: clinical, cytogenetic, and molecular characterization. Am J Med Genet 1994; 49:229-34.
28. Mucke J, Happle R, Theile H. MIDAS syndrome respectively MLS syndrome: a separate entity rather than a particular lyonization pattern of the gene causing Goltz syndrome. Am J Med Genet 1995; 57:117-8.
29. Anguiano A, Yang X, Felix JK, Hoo JJ. Twin brothers with MIDAS syndrome and XX karyotype. Am J Med Genet A 2003; 119:47-9.
30. Kobayashi M, Kiyosawa M, Toyoura T, Tokoro T. An XX male with microphthalmos and sclerocornea. J Pediatr Ophthalmol Strabismus 1998; 35:122-4.
31. Kono T, Migita T, Koyama S, Seki I. Another observation of microphthalmia in an XX male: microphthalmia with linear skin defects syndrome without linear skin lesions. J Hum Genet 1999; 44:63-8.
32. Cape CJ, Zaidman GW, Beck AD, Kaufman AH. Phenotypic variation in ophthalmic manifestations of MIDAS syndrome (microphthalmia, dermal aplasia, and sclerocornea). Arch Ophthalmol, 2004; 122:1070-4.
33. Ito W, Ishiguro H, Kurosawa Y. A general method for introducing a series of mutations into cloned DNA using the polymerase chain reaction. Gene 1991; 102:67-70.
34. Tong J, Margoliash E. Cytochrome c heme lyase activity of yeast mitochondria. J Biol Chem 1998; 273:25695-702.
35. Dumont ME, Schlichter JB, Cardillo TS, Hayes MK, Bethlendy G, Sherman F. CYC2 encodes a factor involved in mitochondrial import of yeast cytochrome c. Mol Cell Biol 1993;13:6442-51.
36. Ogata T, Wakui K, Muroya K, Ohashi H, Matsuo N, Brown DM, Ishii T, Fukushima Y. Microphthalmia with linear skin defects syndrome in a mosaic female infant with monosomy for the Xp22 region: molecular aualysis of the Xp22 breakpoint and the X-inactivation pattern. Hum Genet 1998; 103:51-6.
37. Diekert K, Kispal G, Guiard B, Lill R. An internal targeting signal directing proteins into the mitochondrial intermembrane space. Proc Natl Acad Sci U S A 1999; 96:11752-7.
38. Kranz R, Lill R, Goldman B, Bonnard G, Merchant S. Molecular mechanisms of cytochrome c biogenesis: three distinct systems. Mol Microbiol 1998; 29:383-96.
39. Dumont ME, Ernst JF, Hampsey DM, Sherman F. Identification and sequence of the gene encoding cytochrome c heme lyase in the yeast Saccharomyces cerevisiae. EMBO J 1987; 6:235-41.
40. Schwarz QP, Cox TC. Complementation of a yeast CYC3 deficiency identifies an X-linked mammalian activator of apocytochrome c. Genomics 2002; 79:51-7.
41. Majno G, Joris I. Apoptosis, oncosis, and necrosis. An overview of cell death. Am J Pathol 1995; 146:3-15.
42. Proskuryakov SY, Konoplyannikov AG, Gabai VL. Necrosis: a specific form of programmed cell death? Exp Cell Res 2003; 283:1-16.
43. Kiryu-Seo S, Gamo K, Tachibana T, Tanaka K, Kiyama H. Unique anti-apoptotic activity of EAAC1 in injured motor neurons. EMBO J 2006; 25:3411-21.
44. Salyesen GS, Duckett CS. IAP proteins: blocking the road to death's door. Nat Rev Mol Cell Biol 2002; 3:401-10.
45. Prakash SK, Cormier TA, McCall AE, Garcia JJ, Sierra R, Haupt B, Zoghbi HY, Van Den Veyver IB. Loss of holocytochrome c-type synthetase causes the male lethality of X-linked dominant microphthalmia with linear skin defects (MLS) syndrome. Hum Mol Genet 2002; 11:3237-48.
46. Kenwrick S, Woffendin H, Jakins T, Shuttleworth SG, Mayer E, Greenhalgh L, Whittaker J, Rugolotto S, Bardaro T, Esposito T, D'Urso M, Soli F, Turco A, Smahi A, Hamel-Teillac D, Lyonnet S, Bonnefont JP, Munnich A, Aradhya S, Kashork CD, Shaffer LG, Nelson DL, Levy M, Lewis RA, International IP Consortium. Survival of male patients with incontinentia pigmenti carrying a lethal mutation can be explained by somatic mosaicism or Klinefelter syndrome. Am J Hum Genet 2001; 69:1210-7.