Glaucoma spectrum and age-related prevalence of individuals with FOXC1 and PITX2 variants

European Journal of Human Genetics : EJHG
Emmanuelle SouzeauJ E Craig

Abstract

Variation in FOXC1 and PITX2 is associated with Axenfeld-Rieger syndrome, characterised by structural defects of the anterior chamber of the eye and a range of systemic features. Approximately half of all affected individuals will develop glaucoma, but the age at diagnosis and the phenotypic spectrum have not been well defined. As phenotypic heterogeneity is common, we aimed to delineate the age-related penetrance and the full phenotypic spectrum of glaucoma in FOXC1 or PITX2 carriers recruited through a national disease registry. All coding exons of FOXC1 and PITX2 were directly sequenced and multiplex ligation-dependent probe amplification was performed to detect copy number variation. The cohort included 53 individuals from 24 families with disease-associated FOXC1 or PITX2 variants, including one individual diagnosed with primary congenital glaucoma and five with primary open-angle glaucoma. The overall prevalence of glaucoma was 58.5% and was similar for both genes (53.3% for FOXC1 vs 60.9% for PITX2, P=0.59), however, the median age at glaucoma diagnosis was significantly lower in FOXC1 (6.0±13.0 years) compared with PITX2 carriers (18.0±10.6 years, P=0.04). The penetrance at 10 years old was significantly lower in PITX2 ...Continue Reading

References

Feb 1, 1978·Journal of Medical Genetics·N Fitch, M Kaback
Mar 1, 1987·Archives of Ophthalmology·J G Ferguson, E L Hicks
May 1, 1985·Survey of Ophthalmology·M B ShieldsR Thresher
Sep 27, 2000·American Journal of Ophthalmology·W L Alward
Mar 5, 2003·American Journal of Ophthalmology·Robert A HonkanenWallace L M Alward
Feb 27, 2004·Investigative Ophthalmology & Visual Science·Matthew A LinesMichael A Walter
Apr 29, 2006·Survey of Ophthalmology·Faisal IdreesPeng T Khaw
Aug 29, 2006·Investigative Ophthalmology & Visual Science·Nicole WeisschuhEugen Gramer
Jan 2, 2007·Investigative Ophthalmology & Visual Science·M Hermina StrungaruMichael A Walter
Mar 12, 2008·Journal of Oral Pathology & Medicine : Official Publication of the International Association of Oral Pathologists and the American Academy of Oral Pathology·P Meyer-MarcottyA Stellzig-Eisenhauer
Mar 27, 2010·Case Reports in Medicine·Simone DresslerEugen Gramer
Oct 1, 2010·Investigative Ophthalmology & Visual Science·Barbara D'haeneElfride De Baere
Dec 17, 2011·Clinical & Experimental Ophthalmology·Emmanuelle SouzeauJamie E Craig
Jan 12, 2012·European Journal of Human Genetics : EJHG·Andrée DelahayeBrigitte Benzacken
May 10, 2012·European Journal of Human Genetics : EJHG·Linda M ReisElena V Semina
May 24, 2016·The Journal of Clinical Investigation·Anees FatimaTsutomu Kume

❮ Previous
Next ❯

Citations

Jul 7, 2018·JAMA Ophthalmology·Laura A TorradoMichael C Brodsky
Nov 21, 2018·Ophthalmic Genetics·Nancy Hernández-MartínezCristina Villanueva-Mendoza
May 3, 2020·BMC Ophthalmology·Emily M ZepedaBrenda L Bohnsack
Dec 19, 2019·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Eva LenassiPanagiotis I Sergouniotis
Aug 25, 2020·Translational Vision Science & Technology·Elena LangChristina Gerth-Kahlert
Nov 25, 2020·American Journal of Medical Genetics. Part a·Emmanuelle SouzeauJamie E Craig
Feb 4, 2021·Genes·Paul W ChrystalAndrew J Waskiewicz

❮ Previous
Next ❯

Methods Mentioned

BETA
PCR

Software Mentioned

- 2
Polyphen
SPSS
Mutation Surveyor
SIFT

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.

Related Papers

Genetics in Medicine : Official Journal of the American College of Medical Genetics
Chien-Hao HuangTsang-Ming Ko
Ophthalmic Genetics
Deepak EdwardBassem Bejjani
© 2022 Meta ULC. All rights reserved