TITLE

Novel nonsense mutation (Tyr44stop) of the Norrie disease gene in a Japanese family

AUTHOR(S)
Hatsukawa, Y.; Nakao, T.; Yamagishi, T.; Okamoto, N.; Isashiki, Y.
PUB. DATE
December 2002
SOURCE
British Journal of Ophthalmology;Dec2002, Vol. 86 Issue 12, p1452
SOURCE TYPE
Academic Journal
DOC. TYPE
Article
ABSTRACT
Reports a case of truncating mutation of the Norrie disease (ND) gene in a Japanese family, in whom the proband was initially diagnosed with a sporadic form of persistent hyperplastic primary vitreous (PHPV). Case details; Low frequency of ND gene in PHPV populations; Genetic assessment that enables early diagnosis.
ACCESSION #
9738653

 

Related Articles

  • A high-throughput nonisotopic protein truncation test. Gite, Sadanand; Lim, Mark; Carlson, Rick; Olejnik, Jerzy; Zehnbauer, Barbara; Rothschild, Kenneth // Nature Biotechnology;Feb2003, Vol. 21 Issue 2, p194 

    Nonsense or frameshift mutations, which result in a truncated gene product, are prevalent in a variety of disease-related genes, including APC (implicated in colorectal cancer), BRCA1 and BRCA2 (breast and ovarian cancer), PKD1 (polycystic kidney disease), NF1 and NF2 (neurofibromatosis), and...

  • Menkes Gene Study in the Chinese Population. Mak, Betty Suk-Chun; Ching-Shiang Chi; Chi-Ren Tsai // Journal of Child Neurology;Apr2002, Vol. 17 Issue 4, p250 

    We sought to determine the nature of the molecular defect causing Menkes' syndrome in the Chinese population. The DNA of four patients with typical Menkes manifestation was sequenced. Two pathologic genetic defects were identified; one of them is a nonsense mutation, whereas the other is a...

  • Mutational analysis of the GPC3 /GPC4 glypican gene cluster on Xq26 in patients with Simpson-Golabi-Behmel syndrome: identification of loss-of-function mutations in the GPC3 gene. Veugelers, Mark // Human Molecular Genetics;May2000, Vol. 9 Issue 9 

    Examines the mutational status of the glypican-3 gene (GPC3) and glypican-4 gene (GPC4) in Simpson-Golabi-Behmel syndrome and Beckwith-Wiedemann syndrome patients. Deletion of a GPC3 exon; Point mutations in GPC3; Frameshift, nonsense, missense and splice mutations; Nucleotide polymorphisms in...

  • Mutations in Eukaryotic Release Factors 1 and 3 Act as General Nonsense Suppressors in Drosophila. Chao, Anna T.; Dierick, Herman A.; Addy, Tracie M.; Bejsovec, Amy // Genetics;Oct2003, Vol. 165 Issue 2, p601 

    In a screen for suppressors of the Drosophila wingless[sup PEA] nonsense allele, we isolated mutations in the two components that form eukaryotic release factor, eRF1 and eRF3 comprise the translation termination complex that recognizes stop codons and catalyzes the release of nascent...

  • Sense versus nonsense in DNA diagnostics. Culbertson, Michael R. // Nature Biotechnology;May2001, Vol. 19 Issue 5, p413 

    Focuses on an approach used for detecting nonsense transcripts in human cells using phramacological method of nonsense-mediated messenger RNA (mRNA) decay pathway (NMD). Comparison between sense and nonsense in DNA diagnostics; Significance of DNA microarrays in detecting changes in transcript...

  • Rent1, a trans-effector of nonsense-mediated mRNA decay, is essential for mammalian embryonic viability. Medghalchi, Susan M.; Frischmeyer, Pamela A.; Kelly, Amy G.; Lawler, Ann M.; Dietz, Harry C. // Human Molecular Genetics;Jan2001, Vol. 10 Issue 2, p99 

    Explores the consequences of loss of nonsense-mediated RNA decay (NMD) function in vertebrates through targeted disruption of the Rent1 gene in murine embryonic stem cells. Phenotypic abnormalities observed in mice heterozygous for the targeted allele; Importance of the Rent1 gene to embryonic...

  • Context Analysis of Termination Codons in mRNA that are Recognized by Plant NMD. Koichi Hori; Yuichiro Watanabe // Plant & Cell Physiology;Jul2007, Vol. 48 Issue 7, p1072 

    The nonsense-mediated mRNA decay (NMD) system is an RNA surveillance system that degrades mRNAs possessing premature translation termination codons (PTCs). Although NMD factors are well conserved in eukaryotes, it is speculated that the contexts of those termination codons that are subject to...

  • Desbuquois dysplasia type I and fetal hydrops due to novel mutations in the CANT1 gene. Laccone, Franco; Schoner, Katharina; Krabichler, Birgit; Kluge, Britta; Schwerdtfeger, Robin; Schulze, Bernt; Zschocke, Johannes; Rehder, Helga // European Journal of Human Genetics;Nov2011, Vol. 19 Issue 11, p1133 

    We report on three hydropic fetuses of 17, 22 and 25 gestational weeks from three distinct families presenting with Desbuquois dysplasia type 1. All fetuses showed brachymelia and characteristic dysmorphic features. X-ray studies revealed δ-shaped extraphalangeal bones and disease-specific...

  • Clinical utility gene card for: Meckel syndrome. Salonen, R; Kestilä, M; Bergmann, C // European Journal of Human Genetics;Jul2011, Vol. 19 Issue 7, p1 

    The article offers information on the clinical utility gene card for the genetic disorder Meckel-Gruber syndrome (MKS). It mentions three different mutations described in MKS patients such as splicing, missense, and nonsense mutations. Furthermore, the analytical methods for MKS involve the...

Share

Read the Article

Courtesy of THE LIBRARY OF VIRGINIA

Sorry, but this item is not currently available from your library.

Try another library?
Sign out of this library

Other Topics