Association of a de novo 16q copy number variant with a phenotype that overlaps with Lenz microphthalmia and Townes-Brocks syndromes

BMC Medical Genetics

Volumn 10, Issue , 2009, Pages

  Bardakjian, Tanya M ^a   Schneider, Adele S ^a   Ng, David ^b   Johnston, Jennifer J ^b   Biesecker, Leslie G ^b  

^a ALBERT EINSTEIN MEDICAL CENTER   (United States)

^b NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BINDING PROTEIN; MELATONIN; SAL LIKE PROTEIN 1; UNCLASSIFIED DRUG;

ADOLESCENT; ANOPHTHALMIA; ANUS FISTULA; ARTICLE; BONE AGE; CASE REPORT; CHILD; CHORDEE; CHROMOSOME 16Q; CHROMOSOME DELETION; COMPARATIVE GENOMIC HYBRIDIZATION; COMPUTER ASSISTED TOMOGRAPHY; ECHOCARDIOGRAPHY; EYE MALFORMATION; GENE NUMBER; GENETIC ASSOCIATION; GENETIC VARIABILITY; GROWTH RETARDATION; HEART VENTRICLE SEPTUM DEFECT; HUMAN; INFANT; LENZ MICROPHTHALMIA SYNDROME; MALE; MENTAL DEFICIENCY; MUSCLE HYPOTONIA; NEWBORN; PATENT DUCTUS ARTERIOSUS; PHENOTYPE; SLEEP DISORDER; TOWNES BROCKS SYNDROME; ANUS ATRESIA; CHROMOSOME 16; CONGENITAL MALFORMATION; COPY NUMBER VARIATION; DNA MICROARRAY; EXTERNAL EAR; GENE DELETION; GENETIC PREDISPOSITION; GENETICS; MICROPHTHALMIA; MULTIPLE MALFORMATION SYNDROME; SYNDROME; THUMB;

FISTULA;

ABNORMALITIES, MULTIPLE; ADOLESCENT; ANUS, IMPERFORATE; CHROMOSOMES, HUMAN, PAIR 16; DNA COPY NUMBER VARIATIONS; EAR, EXTERNAL; GENE DELETION; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; HUMANS; INFANT, NEWBORN; MALE; MICROPHTHALMOS; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; PHENOTYPE; SYNDROME; THUMB;

EID: 74549160255     PISSN: None     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/1471-2350-10-137     Document Type: Article

References (37)

1. Clementi M, Tenconi R, Bianchi F, Botto L, Calabro A, Calzolari E, Cianciulli D, Mammi I, Mastroiacovo P, Meli P, Spagnolo A, Turolla L, Volpato S. Congenital eye malformations: a descriptive epidemiologic study in about one million newborns in Italy. Birth Defects Orig Artic Ser 1996, 30:413-424.
2. Kallen B, Robert E, Harris J. The descriptive epidemiology of anophthalmia and microphthalmia. Int J Epidemiol 1996, 25:1009-1016. 10.1093/ije/25.5.1009, 8921488.
3. Dolk H, Busby A, Armstrong BG, Walls PH. Geographical variation in anophthalmia and microphthalmia in England, 1988-94. BMJ 1998, 317:905-909. discussion 910., 28673, 9756803.
4. 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. Journal of Medical Genetics 2002, 39:16-22. 10.1136/jmg.39.1.16, 1734963, 11826019.
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. Nature Genetics 1994, 7:463-471. 10.1038/ng0894-463, 7951315.
6. 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. Human Molecular Genetics 2004, 13:315-322. 10.1093/hmg/ddh025, 14662654.
7. 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. Nature Genetics 2000, 25:397-401. 10.1038/78071, 10932181.
8. Male A, Davies A, Bergbaum A, Keeling J, FitzPatrick D, Mackie Ogilvie C, Berg J. Delineation of an estimated 6.7 MB candidate interval for an anophthalmia gene at 3q26.33-q28 and description of the syndrome associated with visible chromosome deletions of this region. European Journal of Human Genetics 2002, 10:807-812. 10.1038/sj.ejhg.5200890, 12461687.
9. 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. discussion 8..
10. Bakrania P, Robinson DO, Bunyan DJ, Salt A, Martin A, Crolla JA, Wyatt A, Fielder A, Ainsworth J, Moore A, Read S, Uddin J, Laws D, Pascuel-Salcedo D, Ayuso C, Allen L, Collin JR, Ragge NK. SOX2 anophthalmia syndrome: 12 new cases demonstrating broader phenotype and high frequency of large gene deletions. Br J Ophthalmol 2007, 91:1471-1476. 10.1136/bjo.2007.117929, 17522144.
11. Hilton E, Johnston J, Whalen S, Okamoto N, Hatsukawa Y, Nishio J, Kohara H, Hirano Y, Mizuno S, Torii C, et al. BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects. European Journal of Human Genetics 2009,
12. Ng D, Thakker N, Corcoran CM, Donnai D, Perveen R, Schneider A, Hadley DW, Tifft C, Zhang L, Wilkie AO, 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, 36:411-416. 10.1038/ng1321, 15004558.
13. Jones KL. Smith's Recognizable Patterns of Human Malformation 2006, Philadelphia: Elsevier Saunders, 6.
14. Hilton E, Johnston J, Whalen S, Okamoto N, Hatsukawa Y, Nishio J, Kohara H, Hirano Y, Mizuno S, Torii C, et al. BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects. European Journal of Human Genetics 2009, 17:1325-1335. 10.1038/ejhg.2009.52, 19367324.
15. Graham CA, Redmond RM, Nevin NC. X-linked clinical anophthalmos. Localization of the gene to Xq27-Xq28. Ophthalmic Paediatr Genet 1991, 12:43-48. 10.3109/13816819109023084, 1679229.
16. Piton A, Michaud JL, Peng H, Aradhya S, Gauthier J, Mottron L, Champagne N, Lafreniere RG, Hamdan FF, Joober R, Fombonne E, Marineau C, Cossette P, Dube MP, Haghighi P, Drapeau P, Barker PA, Carbonetto S, Rouleau GA. Mutations in the calcium-related gene IL1RAPL1 are associated with autism. Human Molecular Genetics 2008, 17:3965-3974. 10.1093/hmg/ddn300, 18801879.
17. Ballif BC, Theisen A, McDonald-McGinn DM, Zackai EH, Hersh JH, Bejjani BA, Shaffer LG. Identification of a previously unrecognized microdeletion syndrome of 16q11.2q12.2. Clinical Genetics 2008, 74:469-475. 10.1111/j.1399-0004.2008.01094.x, 18811697.
18. Kohlhase J, Wischermann A, Reichenbach H, Froster U, Engel W. Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome. Nature Genetics 1998, 18:81-83. 10.1038/ng0198-81, 9425907.
19. Borozdin W, Steinmann K, Albrecht B, Bottani A, Devriendt K, Leipoldt M, Kohlhase J. Detection of heterozygous SALL1 deletions by quantitative real time PCR proves the contribution of a SALL1 dosage effect in the pathogenesis of Townes-Brocks syndrome. Human Mutation 2006, 27:211-212. 10.1002/humu.9396, 16429401.
20. Gorlin RJ, Cohen MM, Hennekam RCM. Syndromes of the head and neck 2001, Oxford: Oxford University Press, 4.
21. Botzenhart EM, Bartalini G, Blair E, Brady AF, Elmslie F, Chong KL, Christy K, Torres-Martinez W, Danesino C, Deardorff MA, Fryns JP, Marlin S, Garcia-Minaur S, Hellenbroich Y, Hay BN, Penttinen M, Shashi V, Terhal P, Van Maldergem L, Whiteford ML, Zackai E, Kohlhase J. Townes-Brocks syndrome: twenty novel SALL1 mutations in sporadic and familial cases and refinement of the SALL1 hot spot region. Human Mutation 2007, 28:204-205. 10.1002/humu.9476, 17221874.
22. Fraser F, Cooper A. Micropthalmia as part of the townes syndrome. Proceedings of the Greenwood Genetics Center 1985, 4:129.
23. Li SJ, Ford N, Meister K, Bodurtha J. Increased risk of birth defects among children from multiple births. Birth Defects Res A Clin Mol Teratol 2003, 67:879-885. 10.1002/bdra.10093, 14745942.
24. 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.
25. Miceli-Richard C, Lesage S, Rybojad M, Prieur AM, Manouvrier-Hanu S, Hafner R, Chamaillard M, Zouali H, Thomas G, Hugot JP. CARD15 mutations in Blau syndrome. Nature Genetics 2001, 29:19-20. 10.1038/ng720, 11528384.
26. Bignell GR, Warren W, Seal S, Takahashi M, Rapley E, Barfoot R, Green H, Brown C, Biggs PJ, Lakhani SR, Jones C, Hansen J, Blair E, Hofmann B, Siebert R, Turner G, Evans DG, Schrander-Stumpel C, Beemer FA, Ouweland A, Halley D, Delpech B, Cleveland MG, Leigh I, Leisti J, Rasmussen S. Identification of the familial cylindromatosis tumour-suppressor gene. Nature Genetics 2000, 25:160-165. 10.1038/76006, 10835629.
27. Hugot JP, Chamaillard M, Zouali H, Lesage S, Cezard JP, Belaiche J, Almer S, Tysk C, O'Morain CA, Gassull M, Binder V, Finkel Y, Cortot A, Modigliani R, Laurent-Puig P, Gower-Rousseau C, Macry J, Colombel JF, Sahbatou M, Thomas G. Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease. Nature 2001, 411:599-603. 10.1038/35079107, 11385576.
28. Blau EB. Familial granulomatous arthritis, iritis, and rash. J Pediatr 1985, 107:689-693. 10.1016/S0022-3476(85)80394-2, 4056967.
29. Pastores GM, Michels VV, Stickler GB, Su WP, Nelson AM, Bovenmyer DA. Autosomal dominant granulomatous arthritis, uveitis, skin rash, and synovial cysts. J Pediatr 1990, 117:403-408. 10.1016/S0022-3476(05)81080-7, 2391595.
30. Scheinfeld N, Hu G, Gill M, Austin C, Celebi JT. Identification of a recurrent mutation in the CYLD gene in Brooke-Spiegler syndrome. Clin Exp Dermatol 2003, 28:539-541. 10.1046/j.1365-2230.2003.01344.x, 12950348.
31. Hoo JJ, Lowry RB, Lin CC, Haslam RH. Recurrent de novo interstitial deletion of 16q in two mentally retarded sisters. Clinical Genetics 1985, 27:420-425.
32. Knoblauch H, Thiel G, Tinschert S, Korner H, Tennstedt C, Chaoui R, Kohlhase J, Dixkens C, Blanck C. Clinical and molecular cytogenetic studies of a large de novo interstitial deletion 16q11.2-16q21 including the putative transcription factor gene SALL1. Journal of Medical Genetics 2000, 37:389-392. 10.1136/jmg.37.5.389, 1734584, 10905896.
33. Krauss CM, Caldwell D, Atkins L. Interstitial deletion and ring chromosome derived from 16q. Journal of Medical Genetics 1987, 24:308-312. 10.1136/jmg.24.5.308, 1050059, 3585948.
34. Schuffenhauer S, Callen DF, Seidel H, Shen Y, Lederer G, Murken J. De novo interstitial deletion 16(q12.1q13) of paternal origin in a 10-year-old boy. Clinical Genetics 1992, 42:246-250.
35. Callen DF, Eyre H, Lane S, Shen Y, Hansmann I, Spinner N, Zackai E, McDonald-McGinn D, Schuffenhauer S, Wauters J, et al. High resolution mapping of interstitial long arm deletions of chromosome 16: relationship to phenotype. Journal of Medical Genetics 1993, 30:828-832. 10.1136/jmg.30.10.828, 1016564, 8230159.
36. Matthaei A, Werner W, Gerlach EM, Koerner U, Tinschert S, Nitz I, Herr A, Rump A, Bartsch O, Hinkel KG, Schrock E, Oexle K. Small reciprocal insertion detected by spectral karyotyping (SKY) and delimited by array-CGH analysis. Eur J Med Genet 2005, 48:328-338. 10.1016/j.ejmg.2005.04.024, 16179228.
37. Elder FF, Ferguson JW, Lockhart LH. Identical twins with deletion 16q syndrome: evidence that 16q12.2-q13 is the critical band region. Human Genetics 1984, 67:233-236. 10.1007/BF00273010, 6540242.