Mutation spectrum of the CYP1B1 gene for congenital glaucoma in the Japanese population

Japanese Journal of Ophthalmology
Nobuo FuseKohji Nishida

Abstract

Mutations of the CYP1B1 gene cause primary congenital glaucoma (PCG), Peters anomaly, and juvenile open-angle glaucoma (JOAG). The aim of this study was to determine the spectrum and role of the CYP1B1 gene in Japanese patients with PCG or JOAG. Genomic DNA was extracted from the leukocytes of 18 unrelated patients with PCG and 21 unrelated patients with JOAG. All of the patients developed high intraocular pressure (IOP) before the age of 35 years. One hundred unrelated healthy adults with normal IOP were examined in the same way. The three exons of the CYP1B1 gene were amplified by polymerase chain reaction and directly sequenced. Mutational screening and sequence analyses of the CYP1B1 gene revealed four mutations in four patients with PCG: p.Asp192Val, c.4776insAT, p.Val364Met, and p.Asp430Glu. The first three mutations have been reported in other Japanese PCG patients, but Asp430Glu is a new mutation. No mutations were found in the CYP1B1 gene of the JOAG patients. PCG in approximately 20% of Japanese patients may be associated with CYP1B1 mutations, but JOAG is not. The three mutations p.Asp192Val, c.4776insAT, and p.Val364Met appear to be common in the Japanese population and might be useful in genetic screening for PCG.

References

Aug 1, 1996·Human Molecular Genetics·A N AkarsuMansoor Sarfarazi
Oct 8, 1999·American Journal of Ophthalmology·T KakiuchiN Ohba
Mar 10, 2001·American Journal of Ophthalmology·T Kakiuchi-MatsumotoK Unoki
Jun 14, 2001·Journal of Medical Genetics·A VincentElise Héon
Aug 28, 2001·Drug Metabolism and Drug Interactions·Ivaylo R StoilovJohn B Schenkman
Jan 5, 2002·American Journal of Human Genetics·Andrea L VincentElise Héon
Sep 26, 2003·Investigative Ophthalmology & Visual Science·Aramati B M ReddyDorairajan Balasubramanian
Sep 3, 2004·Journal of Medical Genetics·R MelkiH-J Garchon
Dec 29, 2004·Ophthalmic Genetics·Deepak EdwardB A Bejjani
Oct 15, 2008·Archives of Ophthalmology·Yuhong ChenXinghuai Sun

Citations

May 1, 2010·The Tohoku Journal of Experimental Medicine·Nobuo Fuse
Nov 15, 2013·The British Journal of Ophthalmology·Xueli ChenXinghuai Sun
May 9, 2015·European Journal of Ophthalmology·Mariana S CardosoCristina Brito
May 1, 2013·Journal of Current Glaucoma Practice·Muneeb FaiqTanuj Dada

Related Concepts

CYP1B1 protein, human
Teens
Xenobiotic Monooxygenases
Cytochrome P-450 Oxygenase
DNA Mutational Analysis
Mini-Exon
Glaucoma, Open-Angle
Hydrophthalmos
Physiologic Intraocular Pressure
Genealogical Tree

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.

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.

Lipidomics & Rhinovirus Infection

Lipidomics can be used to examine the lipid species involved with pathogenic conditions, such as viral associated inflammation. Discovered the latest research on Lipidomics & Rhinovirus Infection.

Glut1 Deficiency

Glut1 deficiency, an autosomal dominant, genetic metabolic disorder associated with a deficiency of GLUT1, the protein that transports glucose across the blood brain barrier, is characterized by mental and motor developmental delays and infantile seizures. Follow the latest research on Glut1 deficiency with this feed.

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.

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.

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.

Laryngeal Neoplasms

Laryngeal Neoplasms occur in the Larynx and are typically associated with smoking and alcohol consumption. Discover the latest research on Laryngeal Neoplasms here.

Cell Atlas Along the Gut-Brain Axis

Profiling cells along the gut-brain axis at the single cell level will provide unique information for each cell type, a three-dimensional map of how cell types work together to form tissues, and insights into how changes in the map underlie health and disease of the GI system and its crosstalk with the brain. Disocver the latest research on single cell analysis of the gut-brain axis here.