Autosomal dominant cataracts and Peters anomaly in a large Australian family

Clinical Genetics
S J WithersK M Summers

Abstract

Peters anomaly is a congenital corneal opacity with underlying defects in the posterior stroma, Descemets membrane and corneal endothelium. It is a disorder resulting from abnormal migration or function of neural crest cells and may include abnormalities of other anterior segment structures, such as the lens and iris. We report a family in which anterior segment abnormalities, including Peters anomaly and cataracts, were inherited in an autosomal dominant fashion. Although the PAX6 gene on chromosome 11 has been shown to be involved in some cases of anterior segment developmental defects, we found no evidence that the condition in this family is linked to the PAX6 gene. Identification of this gene will indicate another gene with major involvement in the development of the anterior segment of the eye.

References

Jan 1, 1978·American Journal of Ophthalmology·M Warburg
Jul 1, 1975·Survey of Ophthalmology·G O WaringP R Laibson
Feb 1, 1976·American Journal of Ophthalmology·D L StoneS J Ryan
Aug 1, 1992·Nature Genetics·T JordanV van Heyningen
Jun 1, 1992·Ophthalmic Paediatrics and Genetics·E HéonM A Musarella
Oct 1, 1991·The British Journal of Ophthalmology·G E HolmströmD Taylor
Jan 1, 1986·Archives of Ophthalmology·J D KivlinR J Olson
Mar 1, 1966·Archives of Ophthalmology·A B Reese, R M Ellsworth
Jan 1, 1984·American Journal of Ophthalmology·J B BatemanR S Sparkes
Jan 1, 1982·American Journal of Ophthalmology·H M HittnerR S Mehta
Dec 1, 1980·Ophthalmology·D J SchanzlinS I Brown
Nov 1, 1993·Human Molecular Genetics·A D MarthaG F Saunders
Nov 1, 1993·Human Molecular Genetics·Z PangH L Ozer
Jan 1, 1993·Nature Genetics·M TassabehjiT Strachan
Jul 1, 1996·The British Journal of Ophthalmology·A Churchill, A P Booth
Apr 29, 1998·American Journal of Human Genetics·J F Hejtmancik
Nov 1, 1960·American Journal of Ophthalmology·A BAQUEIRO, P A HEIN

Citations

Jul 18, 2002·Annales de génétique·Liesbeth J J M Maillette de Buy Wenniger-Prick, Raoul C M Hennekam
Jan 22, 2002·The British Journal of Ophthalmology·K K NischalD S Rootman
Jan 19, 2002·Journal of Comparative Pathology·H L SwansonC J Murphy
Dec 26, 2015·Journal of Cataract and Refractive Surgery·Joshua H HouJose de la Cruz
Jul 12, 2008·Acta Ophthalmologica·Nilufer BerkerMehmet Alikasifoglu
May 25, 2005·Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology·G BoogM Joubert

Related Concepts

PAX6 protein, human
PAX6 Transcription Factor
Pseudoaphakia
Chromosomes, Human, Pair 11
Corneal Opacity
DNA Helix Destabilizing Proteins
Eye Proteins
Genes, Dominant
Genetic Markers
Genetic Linkage Analysis

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.

Alzheimer's Disease: MS4A

Variants within the membrane-spanning 4-domains subfamily A (MS4A) gene cluster have recently been implicated in Alzheimer's disease in genome-wide association studies. Here is the latest research on Alzheimer's disease and MS4A.

Pediculosis pubis

Pediculosis pubis is a disease caused by a parasitic insect known as Pthirus pubis, which infests human pubic hair, as well as other areas with hair including eye lashes. Here is the latest research.

Rh Isoimmunization

Rh isoimmunization is a potentially preventable condition that occasionally is associated with significant perinatal morbidity or mortality. Discover the latest research on Rh Isoimmunization here.

Genetic Screens in iPSC-derived Brain Cells

Genetic screening is a critical tool that can be employed to define and understand gene function and interaction. This feed focuses on genetic screens conducted using induced pluripotent stem cell (iPSC)-derived brain cells. It also follows CRISPR-Cas9 approaches to generating genetic mutants as a means of understanding the effect of genetics on phenotype.

Enzyme Evolution

This feed focuses on molecular models of enzyme evolution and new approaches (such as adaptive laboratory evolution) to metabolic engineering of microorganisms. Here is the latest research.

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.

Pharmacology of Proteinopathies

This feed focuses on the pharmacology of proteinopathies - diseases in which proteins abnormally aggregate (i.e. Alzheimer’s, Parkinson’s, etc.). Discover the latest research in this field with this feed.

Alignment-free Sequence Analysis Tools

Alignment-free sequence analyses have been applied to problems ranging from whole-genome phylogeny to the classification of protein families, identification of horizontally transferred genes, and detection of recombined sequences. Here is the latest research.