Clinical and molecular aspects of aniridia

Clinical Genetics
H Kokotas, M B Petersen

Abstract

Aniridia is a severe, congenital ocular malformation inherited in an autosomal-dominant fashion with high penetrance and variable expression. Eye morphogenesis in humans involves a molecular genetic cascade in which a number of developmental genes interact in a highly organized process during the embryonic period to produce functional ocular structures. Among these genes, paired box gene 6 (PAX6) has an essential role as it encodes a phylogenetically conserved transcription factor almost universally employed for eye formation in animals with bilateral symmetry, despite widely different embryological origins. To direct eye development, PAX6 regulates the tissue-specific expression of diverse molecules, hormones, and structural proteins. In humans, PAX6 is located in chromosome 11p13, and its mutations lead to a variety of hereditary ocular malformations of the anterior and posterior segment, among which aniridia and most probably foveal hypoplasia are the major signs. Aniridia occurs due to decreased dosage of the PAX6 gene and exists in both sporadic and familial forms. The mutations are scattered throughout the gene and the vast majority of those reported so far are nonsense mutations, frameshift mutations, or splicing errors ...Continue Reading

References

Aug 1, 1992·Nature Genetics·T JordanV van Heyningen
Feb 15, 1992·Proceedings of the National Academy of Sciences of the United States of America·G R Dressler, E C Douglass
May 29, 1992·Cell·P Gruss, C Walther
Apr 1, 1992·Trends in Genetics : TIG·R Hill, V Van Heyningen
Aug 1, 1988·Trends in Genetics : TIG·G R Dressler, P Gruss
Mar 1, 1980·Proceedings of the National Academy of Sciences of the United States of America·R E FerrellV M Riccardi
Jan 1, 1995·Human Mutation·A MarthaG F Saunders
Jan 1, 1994·Journal of Cell Science. Supplement·A MansouriP Gruss
May 1, 1994·Nature Genetics·E Fisher, P Scambler
Dec 1, 1993·Human Molecular Genetics·A Davis, J K Cowell
Feb 1, 1994·Journal of Medical Genetics·A O Wilkie
Jul 1, 1993·Human Molecular Genetics·I M HansonV van Heyningen
Jun 1, 1996·Nature Genetics·N AzumaM Yamada
Jul 1, 1996·The British Journal of Ophthalmology·A Churchill, A Booth
Apr 1, 1997·Genes to Cells : Devoted to Molecular & Cellular Mechanisms·Y YamaguchiN Azuma
Aug 1, 1997·Molecular and Cellular Probes·R A AxtonV van Heyningen
Feb 21, 1998·Nucleic Acids Research·A BrownJ Prosser
Mar 3, 1998·Human Mutation·J Prosser, V van Heyningen
Jul 22, 1998·Human Mutation·J LoveI Hanson
Aug 15, 1998·The Journal of Biological Chemistry·S SinghG F Saunders
Sep 4, 1998·American Journal of Ophthalmology·S K GuptaP E Neumann
Oct 29, 1998·Human Mutation·M T WolfG Wildhardt
May 11, 1999·European Journal of Human Genetics : EJHG·K GrønskovK Brøndum-Nielsen
Aug 12, 1999·American Journal of Human Genetics·N AzumaM Yamada
Aug 26, 1999·Trends in Genetics : TIG·W J Gehring, K Ikeo

❮ Previous
Next ❯

Citations

Feb 20, 2013·Documenta Ophthalmologica. Advances in Ophthalmology·Alice D McTrustyGraeme J Kennedy
Jun 14, 2013·Journal of Applied Genetics·Anna WawrockaMaciej R Krawczynski
Jul 7, 2011·Current Opinion in Ophthalmology·Linda M Reis, Elena V Semina
Jun 3, 2014·Indian Journal of Ophthalmology·Nevbahar TamçelikAhmet Ozkok
Aug 6, 2011·Canadian Journal of Ophthalmology. Journal Canadien D'ophtalmologie·Kevin Gregory-EvansCheryl Y Gregory-Evans
Aug 13, 2013·Canadian Journal of Ophthalmology. Journal Canadien D'ophtalmologie·Na Young LeeShin Hae Park
Feb 1, 2013·Journal of AAPOS : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus·Arif O KhanFowzan S Alkuraya
Apr 29, 2011·Experimental Eye Research·Sachin Shukla, Rajnikant Mishra
Jan 8, 2016·The Ocular Surface·Robert IhnatkoNeil Lagali
Dec 29, 2013·Journal of Pediatric Ophthalmology and Strabismus·Bhupesh SinghVirender S Sangwan
Nov 26, 2013·Clinical Genetics·Z S Fernandes-LimaI L Monlleó
Sep 24, 2015·Human Mutation·Xibo ZhangLing Yu
May 9, 2012·Progress in Retinal and Eye Research·Ohad ShahamRuth Ashery-Padan
Oct 22, 2013·Seminars in Ophthalmology·Hyunjoo J Lee, Kathryn A Colby
Oct 12, 2011·Ophthalmic Genetics·Anna WawrockaMaciej Robert Krawczynski
May 23, 2014·American Journal of Ophthalmology·Salima I HassanalyMona Harissi-Dagher
Dec 15, 2015·Clinical Genetics·A M BobilevJ D Lauderdale
Feb 21, 2018·Journal of Applied Genetics·Anna Wawrocka, Maciej R Krawczynski
Nov 28, 2018·Investigative Ophthalmology & Visual Science·André VicenteFátima Pedrosa Domellöf
Apr 16, 2019·Ophthalmic Genetics·Mehraban MirrahimiFatemeh Suri
Jun 5, 2019·Genetic Testing and Molecular Biomarkers·Ying XiaoBo Gong
Jun 10, 2017·Current Opinion in Ophthalmology·Hyun Taek LimHyuna Kim
Jun 10, 2014·Ophthalmic Plastic and Reconstructive Surgery·Robert J PeraltaJeffrey A Nerad
Sep 11, 2018·Journal of Current Ophthalmology·Ali TorkashvandHassan Hashemi
Feb 23, 2020·Scientific Reports·Seowhang LeeJae-Hwan Choi
Jan 17, 2020·Journal of Sleep Research·Shala Ghaderi BerntssonAnne-Marie Landtblom
Mar 13, 2014·Journal of Glaucoma·Amit JainViney Gupta
Jun 1, 2018·Journal of Ophthalmology·Grace M WangBrenda L Bohnsack
Jan 1, 2016·Expert Review of Ophthalmology·Monica SamantKen K Nischal
Jan 10, 2019·BMC Ophthalmology·Jing-Jing QiuFei Liu
Mar 20, 2021·Archivos de la Sociedad Española de Oftalmología·P Casas-LleraJ L Alió
Jun 17, 2021·Ophthalmic Genetics·Jae-Hwan ChoiKwang-Dong Choi

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.