Insertion and deletion mutations in the dinucleotide repeat region of the Norrie disease gene in patients with advanced retinopathy of prematurity

Journal of Human Genetics
M HiraokaBarkur S Shastry

Abstract

Retinopathy of prematurity (ROP) is a leading cause of blindness in premature children. It is a multifactorial disorder which causes fibrovascular tissue changes that affect the retina in low birth-weight and short gestational age infants. To determine the prevalence of Norrie disease (ND) gene mutations, clinical examination and molecular genetic analyses were performed in 100 pre-term babies of different ethnic backgrounds who developed advanced ROP. The leukocyte DNA was extracted, amplified by the polymerase chain reaction (PCR), and analyzed by single-strand conformation polymorphism (SSCP), G/T and C/A scanning, and by DNA sequencing. All three exons, including splice sites and the 3'-untranslated region, were screened. Of the 100 patients analyzed, 2 patients with advanced ROP showed a mobility shift in the DNA. In 1 patient, this mobility shift was caused by the insertion of an additional 12-bp CT repeat in exon 1, and in the second patient, there was a 14-bp deletion in the same exon of the ND gene, as evidenced by direct sequencing of the amplified products. Similar analyses of exons 2 and 3 and the 3'-untranslated region failed to detect additional mutations in the gene. None of the 130 normal, unrelated controls rev...Continue Reading

Citations

Dec 15, 2010·Current Opinion in Pediatrics·Jing ChenLois E Smith
Nov 21, 2007·The British Journal of Ophthalmology·Gerd HolmströmKeryn A Williams
May 30, 2002·The British Journal of Ophthalmology·C M WheatleyM M Sale
Aug 27, 2010·Journal of Biomedical Science·Barkur S Shastry
Aug 24, 2002·Archives of Disease in Childhood. Fetal and Neonatal Edition·C M WheatleyM M Sale
Feb 10, 2010·Ophthalmic Genetics·Anna EllsJohane M Robitaille
Oct 15, 2011·Canadian Journal of Ophthalmology. Journal Canadien D'ophtalmologie·Zalman WeintraubShimon Rumelt
Jan 6, 2016·Ophthalmic Surgery, Lasers & Imaging Retina·Vishak J JohnAudina M Berrocal
May 31, 2013·Clinics in Perinatology·Clare M WilsonAlistair R Fielder
Jan 24, 2009·Clinics in Perinatology·Karen Maresso, Ulrich Broeckel
Sep 15, 2006·Clinical & Experimental Ophthalmology·Joanne L DickinsonDavid A Mackey
May 17, 2002·Seminars in Neonatology : SN·J R Mccolm, B W Fleck
Apr 21, 2009·Genomics·Abdol Rahim AbbasiTetsuo Kunieda
Oct 20, 2015·Seminars in Perinatology·Mary Elizabeth Hartnett, C Michael Cotten
Jul 26, 2017·Clinical Chemistry and Laboratory Medicine : CCLM·Ana Rodríguez-MuñozTeresa Jaijo
Apr 21, 2004·Retina·Franco M Recchia, Antonio Capone
Aug 22, 2003·American Journal of Pharmacogenomics : Genomics-related Research in Drug Development and Clinical Practice·Hadas Mechoulam, Eric A Pierce
Dec 17, 2008·Seminars in Ophthalmology·Christin L Sylvester
Apr 27, 2013·Acta Ophthalmologica·Giacomo CavallaroFabio Mosca
Oct 7, 2017·The British Journal of Ophthalmology·Sonika RathiInderjeet Kaur
Apr 19, 2019·BMJ Open Ophthalmology·J Edy SiswantoPieter J J Sauer
Sep 5, 2020·Journal of Ophthalmology·Yian LiPeiquan Zhao
Dec 22, 2007·Seminars in Ophthalmology·Scott M WardenShizuo Mukai
Apr 22, 2018·Survey of Ophthalmology·Sang Jin KimMichael F Chiang
Feb 6, 2007·Journal of Pediatric Ophthalmology and Strabismus·Neelakshi Bhagat

❮ 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.