Screening for NDP mutations in 44 unrelated patients with familial exudative vitreoretinopathy or Norrie disease

Current Eye Research
Huiqin YangQingjiong Zhang

Abstract

To screen mutations in the norrin (NDP) gene in 44 unrelated Chinese patients with familial exudative vitreoretinopathy (FEVR, 38 cases) or Norrie disease (6 cases) and to describe the associated phenotypes. Of the 44 patients, mutation in FZD4, LRP5, and TSPAN12 was excluded in 38 patients with FEVR in previous study. Sanger sequencing was used to analyze the 2 coding exons and their adjacent regions of NDP in the 44 patients. Clinical data were presented for patients with mutation. NDP variants in 5 of the 6 patients with Norrie disease were identified, including a novel missense mutation (c.164G>A, p.Cys55Phe) in one patient, two known missense mutations (c.122G>A, p.Arg41Lys; c.220C>T, p.Arg74Cys) in two patients, and a gross deletion encompassing the two coding exons in two patients. Of the 5 patients, 3 had a family history and 2 were singleton cases. No mutation in NDP was detected in the 38 patients with FEVR. NDP mutations are common cause of Norrie disease but might be rare cause for FEVR in Chinese.

References

Mar 1, 1975·Acta Ophthalmologica·M Warburg
Jun 1, 1992·Nature Genetics·W BergerM Warburg
Jan 1, 1995·Human Mutation·D E SchubackK B Sims
Dec 19, 2001·Journal of Medical Genetics·S J TalksC Y Gregory-Evans
Sep 15, 2006·Clinical & Experimental Ophthalmology·Joanne L DickinsonDavid A Mackey
Sep 19, 2006·The British Journal of Ophthalmology·S DhingraC K Patel
Feb 28, 2007·Investigative Ophthalmology & Visual Science·Hiroyuki KondoKenshi Hayashi

❮ Previous
Next ❯

Citations

Jul 26, 2015·Progress in Retinal and Eye Research·J Carlos PastorSantiago Delgado-Tirado
Oct 17, 2015·The British Journal of Ophthalmology·Huan HuQingjiong Zhang
Oct 11, 2016·Journal of the Chinese Medical Association : JCMA·Hong Yan LiuDao Quan Dong
May 18, 2018·Human Molecular Genetics·Muhammad AnsarStylianos E Antonarakis
Nov 20, 2018·Investigative Ophthalmology & Visual Science·Jia-Kai LiJing Li
Nov 27, 2018·Molecular Genetics & Genomic Medicine·Jingjing LiuPeiquan Zhao

❮ 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.