Ophthalmic and systemic findings in interstitial deletions of chromosome 14q: A case feport and literature review

Ophthalmic Genetics

Volumn 33, Issue 3, 2012, Pages 161-166

  Pearce, Zachary D ^a   Droste, Patrick J ^b   Aaberg, Thomas M ^c   Hassan, Adam S ^d  

^a Metro Health Hospital   (United States)

^b Retina Specialists of Michigan ^*

^c Retina Specialists of Michigan   (United States)

^d Eye Plastic and Facial Cosmetic Surgery   (United States)

Author keywords

14q deletion; Anophthalmia; Bone morphogenetic protein 4 (BMP4); Microphthalmia; Optic nerve aplasia; Orthodenticle homolog 2 (OTX2); Sine oculis homeobox homolog 6 (SIX6)

Indexed keywords

BONE MORPHOGENETIC PROTEIN 4; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR OTX2; TRANSCRIPTION FACTOR SIX6; UNCLASSIFIED DRUG;

ANOPHTHALMIA; ANTERIOR FONTANEL; APPENDECTOMY; CASE REPORT; CHROMOSOME 14Q; CHROMOSOME ANALYSIS; CORNEA; DUODENOSTOMY; ELECTROPHYSIOLOGY; FEMALE; FEVER; HUMAN; HYDRAMNIOS; INTERSTITIAL CHROMOSOME DELETION; IRIS COLOBOMA; MICROCEPHALY; NEWBORN; OPHTHALMOSCOPY; OPTICAL COHERENCE TOMOGRAPHY; PRIORITY JOURNAL; RETINA MALFORMATION; REVIEW;

EID: 84864258966     PISSN: 13816810     EISSN: 17445094     Source Type: Journal    
DOI: 10.3109/13816810.2012.655359     Document Type: Review

References (25)

1. Aijaz S, Clark BJ, Williamson K, et al. Absence of SIX6 mutations in microphthalmia, anophthalmia, and coloboma. Invest Ophthalmol Vis Sci 2004;45:3871-3876. (Pubitemid 39411136)
2. Bardakjian T, Weiss A, Schneider AS. Anophthalmia/Microphthalmia Overview. 2004 Jan 29 updated 2007 Feb 15. In: Pagon RA, Bird TD, Dolan CR, Stephens K, editors. GeneReviews Internet. Seattle (WA): University of Washington, Seattle; 1993-. Available from: http://www. ncbi.nlm.nih.gov.proxy2. cl.msu.edu/bookshelf/br.fcgi?boo k=gene&part=anophthalmia-ov
3. Ragge NK, Subak-Sharpe ID, Collin Jr. A practical guide to the management of anophthalmia and microphthalmia. Eye (Lond) 2007;21:1290-1300. (Pubitemid 47541891)
4. Hornby SJ, Gilbert CE, Rahi JK, et al. Regional variation in blindness in children due to microphthalmos, anophthalmos and coloboma. Ophthalmic Epidemiol 2000;7: 127-138. (Pubitemid 30495377)
5. Hornby SJ, Xiao Y, Gilbert CE, et al. Causes of childhood blindness in the People's Republic of China: results from 1131 blind school students in 18 provinces. Br J Ophthalmol 1999;83:929-932. (Pubitemid 29376027)
6. Ahmad ME, Dada R, Dada T, Kucheria K. 14q(22) deletion in a familial case of anophthalmia with polydactyly. Am J Med Genet A 2003;120A:117-122. (Pubitemid 37063843)
7. Bermejo E, Martínez-Frías ML. Congenital eye malformations: clinical-epidemiological analysis of 1,124,654 consecutive births in Spain. Am J Med Genet 1998;75: 497-504. (Pubitemid 28078521)
8. Bennett CP, Betts DR, Seller MJ. Deletion 14q (q22q23) associated with anophthalmia, absent pituitary, and other abnormalities. J Med Genet 1991;28:280-281. (Pubitemid 21922601)
9. Elliott J, Maltby EL, Reynolds B. A case of deletion 14(q22.1->q22.3) associated with anophthalmia and pituitary abnormalities. J Med Genet 1993;30:251-252. (Pubitemid 23097447)
10. Lemyre E, Lemieux N, Décarie JC, Lambert M. Del(14)(q22.1q23.2) in a patient with anophthalmia and pituitary hypoplasia. Am J Med Genet 1993;77: 162-165.
11. Bakrania P, Efthymiou M, Klein JC, et al. Mutations in BMP4 cause eye, brain, and digit developmental anomalies: overlap between the BMP4 and hedgehog signaling pathways. Am J Hum Genet 2008;82:304-319.
12. Online mendelian inheritance in man, OMIM (TM). Johns Hopkins University, Baltimore, MD. Microphthalmia, Syndromic 6; MCOPS6. MIM Number: 607932: 4/18/2008. http://www.ncbi.nlm.nih.gov/omim/607932
13. Online Mendelian Inheritance in Man, OMIM (TM). Johns Hopkins University, Baltimore, MD. Sine Oculis Homeobox, Drosophila, Homolog of, 6; SIX6. MIM Number: 606326: 4/2/2008. http://www.ncbi.nlm.nih.gov/omim/606326.
14. Bacino CA. Re: clinical report by Ahmad et al. 14q(22) deletion in a familial case of anophthalmia with polydactyly. Am J Med Genet A 2004;126A:109-110.
15. Velagalet GV. Concerning 14g (22) deletion in a familial case of anophthalmia with polydactyly. AM J Med Genet A 2004;126A(1):108-110.
16. Nolen LD, Amor D, Haywood A, et al. Deletion at 14q22-23 indicates a contiguous gene syndrome comprising anophthalmia, pituitary hypoplasia, and ear anomalies. Am J Med Genet A 2006;140:1711-1718. (Pubitemid 44148231)
17. Gallardo ME, Lopez-Rios J, Fernaud-Espinosa I, et al. Genomic cloning and characterization of the human homeobox gene SIX6 reveals a cluster of SIX genes in chromosome 14 and associates SIX6 hemizygosity with bilateral anophthalmia and pituitary anomalies. Genomics 1999; 61:82-91. (Pubitemid 29487624)
18. Gallardo ME, Rodríguez De Córdoba S, Schneider AS, et al. Analysis of the developmental SIX6 homeobox gene in patients with anophthalmia/microphthalmia. Am J Med Genet A 2004;129A:92-94. (Pubitemid 38989052)
19. Online Mendelian Inheritance in Man, OMIM (TM). Johns Hopkins University, Baltimore, MD. Bone Morphogenetic Protein 4; BMP4. MIM Number: 112262: 1/13/2011. http://www.ncbi.nlm.nih.gov/omim/112262
20. Wordinger RJ, Fleenor DL, Hellberg PE, et al. Effects of TGF-beta2, BMP-4, and gremlin in the trabecular meshwork: implications for glaucoma. Invest Ophthalmol Vis Sci 2007;48:1191-1200. (Pubitemid 351261414)
21. Wyatt A, Bakrania P, Bunyan DJ, et al. Novel heterozygous OTX2 mutations and whole gene deletions in anophthalmia, microphthalmia and coloboma. Hum Mutat 2008;29:E278-E283.
22. Online Mendelian Inheritance in Man, OMIM (TM). Johns Hopkins University, Baltimore, MD. Orthodenticle, Drosophila, Homolog of, 2; OTX2. MIM Number: 600037: 1/3/2010. http://www.ncbi.nlm.nih.gov/omim/600037
23. Dateki S, Kosaka K, Hasegawa K, Tanaka H, Azuma N, Yokoya S, Muroya K, et al. Heterozygous orthodenticle homeobox 2 mutations are associated with variable pituitary phenotype. J Clin Endocrinol Metab 2010;95:756-764.
24. Ragge NK, Brown AG, Poloschek CM, et al. Heterozygous mutations of OTX2 cause severe ocular malformations. Am J Hum Genet 2005;76:1008-1022. (Pubitemid 40705435)
25. Schilter KF, Schneider A, Bardakjian T, et al. OTX2 microphthalmia syndrome: four novel mutations and delineation of a phenotype. Clin Genet 2011;79:158-168.