Genetics of syndromic ocular coloboma: CHARGE and COACH syndromes

被引：26

作者：

George, Aman ^{[1
]}

Cogliati, Tiziana ^{[1
]}

Brooks, Brian P. ^{[1
]}

机构：

[1] NEI, Ophthalm Genet & Visual Funct Branch, NIH, Bethesda, MD 20892 USA

来源：

EXPERIMENTAL EYE RESEARCH | 2020年 / 193卷

关键词：

SOX2 ANOPHTHALMIA SYNDROME; ABSENT CORPUS-CALLOSUM; MECKEL-GRUBER-SYNDROME; OPTIC FISSURE CLOSURE; JOUBERT SYNDROME; MUTATIONS CAUSE; PHENOTYPIC SPECTRUM; CHD7; MUTATION; HYPOGONADOTROPIC HYPOGONADISM; DEVELOPMENTAL ANOMALIES;

D O I：

10.1016/j.exer.2020.107940

中图分类号：

R77 [眼科学];

学科分类号：

100212 ;

摘要：

Optic fissure closure defects result in uveal coloboma, a potentially blinding condition affecting between 0.5 and 2.6 per 10,000 births that may cause up to 10% of childhood blindness. Uveal coloboma is on a phenotypic continuum with microphthalmia (small eye) and anophthalmia (primordial/no ocular tissue), the so-called MAC spectrum. This review gives a brief overview of the developmental biology behind coloboma and its clinical presentation/spectrum. Special attention will be given to two prominent, syndromic forms of coloboma, namely, CHARGE (Coloboma, Heart defect, Atresia choanae, Retarded growth and development, Genital hypoplasia, and Ear anomalies/deafness) and COACH (Cerebellar vermis hypoplasia, Qligophrenia, Ataxia, Coloboma, and Hepatic fibrosis) syndromes. Approaches employed to identify genes involved in optic fissure closure in animal models and recent advances in live imaging of zebrafish eye development are also discussed.

引用

页数：14

共 184 条

[21] The cellular bases of choroid fissure formation and closure [J].

Bernstein, Cassidy S. ;

Anderson, Mitchell T. ;

Gohel, Chintan ;

Slater, Kayleigh ;

Gross, Jeffrey M. ;

Agarwala, Seema .

DEVELOPMENTAL BIOLOGY, 2018, 440 (02) :137-151

[22] CHARGE association: An update and review for the primary pediatrician [J].

Blake, KD ;

Davenport, SLH ;

Hall, BD ;

Hefner, MA ;

Pagon, RA ;

Williams, MS ;

Lin, AE ;

Graham, JM .

CLINICAL PEDIATRICS, 1998, 37 (03) :159-173

[23] Novel mutations in the gene SALL4 provide further evidence for acro-renal-ocular and Okihiro syndromes being allelic entities, and extend the phenotypic spectrum -: art. no. e102 [J].

Borozdin, W ;

Wright, MJ ;

Hennekam, RCM ;

Hannibal, MC ;

Crow, YJ ;

Neumann, TE ;

Kohlhase, J .

JOURNAL OF MEDICAL GENETICS, 2004, 41 (08)

[24] SALL1 Mutation Analysis in Townes-Brocks Syndrome: Twelve Novel Mutations and Expansion of the Phenotype [J].

Botzenhart, Elke M. ;

Green, Andrew ;

Ilyina, Helena ;

Koenig, Rainer ;

Lowry, R. Brian ;

Lo, Ivan F. M. ;

Shohat, Mordechai ;

Burke, Leah ;

McGaughran, Julie ;

Chafai, Ronit ;

Pierquin, Genevieve ;

Michaelis, Ron C. ;

Whiteford, Margo L. ;

Simola, Kalle O. J. ;

Roesler, Bernd ;

Kohlhase, Juergen .

HUMAN MUTATION, 2005, 26 (03) :282

[25] MKS3/TMEM67 Mutations Are a Major Cause of COACH Syndrome, a Joubert Syndrome Related Disorder with Liver Involvement [J].

Brancati, Francesco ;

Iannicelli, Miriam ;

Travaglini, Lorena ;

Mazzotta, Annalisa ;

Bertini, Enrico ;

Boltshauser, Eugen ;

D'Arrigo, Stefano ;

Emma, Francesco ;

Fazzi, Elisa ;

Gallizzi, Romina ;

Gentile, Mattia ;

Loncarevic, Damir ;

Mejaski-Bosnjak, Vlatka ;

Pantaleoni, Chiara ;

Rigoli, Luciana ;

Salpietro, Carmelo D. ;

Signorini, Sabrina ;

Stringini, Gilda Rita ;

Verloes, Alain ;

Zabloka, Dominika ;

Dallapiccola, Bruno ;

Gleeson, Joseph G. ;

Valente, Enza Maria .

HUMAN MUTATION, 2009, 30 (02) :E432-E442

[26] Joubert Syndrome: Ophthalmological Findings in Correlation with Genotype and Hepatorenal Disease in 99 Patients Prospectively Evaluated at a Single Center [J].

Brooks, Brian P. ;

Zein, Wadih M. ;

Thompson, Amy H. ;

Mokhtarzadeh, Maryam ;

Doherty, Daniel A. ;

Parisi, Melissa ;

Glass, Ian A. ;

Malicdan, May C. ;

Vilboux, Thierry ;

Vemulapalli, Meghana ;

Mullikin, James C. ;

Gahl, William A. ;

Gunay-Aygun, Meral .

OPHTHALMOLOGY, 2018, 125 (12) :1937-1952

[27] Expression profiling during ocular development identifies 2 Nlz genes with a critical role in optic fissure closure [J].

Brown, Jacob D. ;

Dutta, Sunit ;

Bharti, Kapil ;

Bonner, Robert F. ;

Munson, Peter J. ;

Dawid, Igor B. ;

Akhtar, Amana L. ;

Onojafe, Ighovie F. ;

Alur, Ramakrishna P. ;

Gross, Jeffrey M. ;

Hejtmancik, J. Fielding ;

Jiao, Xiaodong ;

Chan, Wai-Yee ;

Brooks, Brian P. .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2009, 106 (05) :1462-1467

[28] Loss of laminin alpha 1 results in multiple structural defects and divergent effects on adhesion during vertebrate optic cup morphogenesis [J].

Bryan, Chase D. ;

Chien, Chi-Bin ;

Kwan, Kristen M. .

DEVELOPMENTAL BIOLOGY, 2016, 416 (02) :324-337

[29] Prenatal findings in children with early postnatal diagnosis of CHARGE syndrome [J].

Busa, Tiffany ;

Legendre, Marine ;

Bauge, Marie ;

Quarello, Edwin ;

Bretelle, Florence ;

Bilan, Frederic ;

Sigaudy, Sabine ;

Gilbert-Dussardier, Brigitte ;

Philip, Nicole .

PRENATAL DIAGNOSIS, 2016, 36 (06) :561-567

[30] SRD5A3 Is Required for Converting Polyprenol to Dolichol and Is Mutated in a Congenital Glycosylation Disorder [J].

Cantagrel, Vincent ;

Lefeber, Dirk J. ;

Ng, Bobby G. ;

Guan, Ziqiang ;

Silhavy, Jennifer L. ;

Bielas, Stephanie L. ;

Lehle, Ludwig ;

Hombauer, Hans ;

Adamowicz, Maciej ;

Swiezewska, Ewa ;

De Brouwer, Arjan P. ;

Bluemel, Peter ;

Sykut-Cegielska, Jolanta ;

Houliston, Scott ;

Swistun, Dominika ;

Ali, Bassam R. ;

Dobyns, William B. ;

Babovic-Vuksanovic, Dusica ;

van Bokhoven, Hans ;

Wevers, Ron A. ;

Raetz, Christian R. H. ;

Freeze, Hudson H. ;

Morava, Eva ;

Al-Gazali, Lihadh ;

Gleeson, Joseph G. .

CELL, 2010, 142 (02) :203-217

← 1 2 3 4 5 6 7 8 9 10 →