The genetics of anophthalmia and microphthalmia

被引：54

作者：

Bardakjian, Tanya M. ^{[1
]}

Schneider, Adele ^{[1
]}

机构：

[1] Albert Einstein Med Ctr, Div Genet, Philadelphia, PA 19141 USA

来源：

CURRENT OPINION IN OPHTHALMOLOGY | 2011年 / 22卷 / 05期

关键词：

anophthalmia; coloboma; microphthalmia; HOMEOBOX GENE; LENZ MICROPHTHALMIA; COLOBOMA MAC; SOX2; MUTATIONS; LHX2; EYE; PHENOTYPE; PATIENT; OTX2;

D O I：

10.1097/ICU.0b013e328349b004

中图分类号：

R77 [眼科学];

学科分类号：

100212 ;

摘要：

Purpose of review To summarize recent breakthroughs regarding the genes known to play a role in normal ocular development in humans and to elucidate the role mutations in these genes play in anophthalmia and microphthalmia. Recent findings The main themes discussed within this article are the various documented genetic advances in identifying the various causes of anophthalmia and microphthalmia. In addition, the complex interplay of these genes during critical embryonic development will be addressed. Summary The recent identification of many eye development genes has changed the ability to identify a cause of anophthalmia and microphthalmia in many individuals. Syndrome identification and the availability of genetic testing underscores the desirability of evaluation by a geneticist for all individuals with anophthalmia and microphthalmia in order to provide appropriate management, long-term guidance, and genetic counseling.

引用

页码：309 / 313

页数：5

共 47 条

[11] Molecular links among the causative genes for ocular malformation:: Otx2 and Sox2 coregulate Rax expression [J].

Danno, Hiroki ;

Michiue, Tatsuo ;

Hitachi, Keisuke ;

Yukita, Akira ;

Ishiura, Shoichi ;

Asashima, Makoto .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2008, 105 (14) :5408-5413

[12] Genetic defects of GDF6 in the zebrafish out of sight mutant and in human eye developmental anomalies [J].

den Hollander, Anneke I. ;

Biyanwila, Janisha ;

Kovach, Peter ;

Bardakjian, Tanya ;

Traboulsi, Elias I. ;

Ragge, Nicola K. ;

Schneider, Adele ;

Malicki, Jarema .

BMC GENETICS, 2010, 11

[13]

Desmaison A, 2010, MOL VIS, V16, P2847

[14] Recurrence of SOX2 anophthalmia syndrome with gonosomal mosaicism in a phenotypically normal mother [J].

Faivre, L ;

Williamson, KA ;

Faber, V ;

Laurent, N ;

Grimaldi, M ;

Thauvin-Robinet, C ;

Durand, C ;

Mugneret, F ;

Gouyon, JB ;

Bron, A ;

Huet, F ;

Hayward, C ;

van Heyningen, V ;

FitzPatrick, DR .

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2006, 140A (06) :636-639

[15] Mutations in SOX2 cause anophthalmia [J].

Fantes, J ;

Ragge, NK ;

Lynch, SA ;

McGill, NI ;

Collin, JRO ;

Howard-Peebles, PN ;

Hayward, C ;

Vivian, AJ ;

Williamson, K ;

van Heyningen, V ;

FitzPatrick, DR .

NATURE GENETICS, 2003, 33 (04) :461-463

[16]

Fuhrmann S, 2010, CURR TOP DEV BIOL, V93, P61, DOI [10.1016/B978-0-12-385044-7.00003-5, 10.1016/S0070-2153(10)93003-2]

[17] PAX6 GENE DOSAGE EFFECT IN A FAMILY WITH CONGENITAL CATARACTS, ANIRIDIA, ANOPHTHALMIA AND CENTRAL-NERVOUS-SYSTEM DEFECTS [J].

GLASER, T ;

JEPEAL, L ;

EDWARDS, JG ;

YOUNG, SR ;

FAVOR, J ;

MAAS, RL .

NATURE GENETICS, 1994, 7 (04) :463-471

[18] Mutational screening of CHX10, GDF6, OTX2, RAX and SOX2 genes in 50 unrelated microphthalmia-anophthalmia-coloboma (MAC) spectrum cases [J].

Gonzalez-Rodriguez, J. ;

Pelcastre, E. L. ;

Tovilla-Canales, J. L. ;

Garcia-Ortiz, J. E. ;

Amato-Almanza, M. ;

Villanueva-Mendoza, C. ;

Espinosa-Mattar, Z. ;

Zenteno, J. C. .

BRITISH JOURNAL OF OPHTHALMOLOGY, 2010, 94 (08) :1100-1104

[19] SOX2 mutation causes anophthalmia, hearing loss, and brain anomalies [J].

Hagstrom, SA ;

Pauer, GJT ;

Reid, J ;

Simpson, E ;

Crowe, S ;

Maumenee, IH ;

Traboulsi, EI .

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2005, 138A (02) :95-98

[20] Facial dysgenesis: A novel facial syndrome with chromosome 7 deletion p15.1-21.1 [J].

Hoover-Fong, JE ;

Cai, J ;

Cargile, CB ;

Thomas, GH ;

Patel, A ;

Griffin, CA ;

Jabs, EW ;

Hamosh, A .

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2003, 117A (01) :47-56

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