PMID: 9541113Apr 16, 1998Paper

Septo-optic dysplasia and WS1 in the proband of a WS1 family segregating for a novel mutation in PAX3 exon 7

Journal of Medical Genetics
M L CareyJ W Innis

Abstract

A four generation family (UoM1) was ascertained with Waardenburg syndrome type 1 (WS1). The proband exhibited both WS1 and septo-optic dysplasia. A G to C transversion was identified in PAX3 exon 7 in four subjects affected with WS1 in this family including the proband. This glutamine to histidine missense mutation at position 391 may also affect splicing. There are over 50 mutations characterised in PAX3 in WS1 patients; however, this is the first example of a WS1 mutation in exon 7 of PAX3.

References

Feb 1, 1989·Proceedings of the National Academy of Sciences of the United States of America·M VidaudM Goossens
Sep 30, 1972·British Medical Journal·C G BrookR D Hoare
Jan 1, 1994·Human Mutation·C T BaldwinA Milunsky
Jan 1, 1993·Nature Genetics·M TassabehjiT Strachan
Aug 28, 1995·American Journal of Medical Genetics·C T BaldwinA Milunsky
Nov 1, 1995·Human Molecular Genetics·M TassabehjiW Reardon

❮ Previous
Next ❯

Citations

Jul 16, 2004·European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society·Harvey B Sarnat
Mar 5, 2003·European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society·Harvey B Sarnat
Mar 14, 2002·American Journal of Medical Genetics·L FaivreD Teillac
Apr 16, 2016·Human Genome Variation·Yu YoshidaKazuo Ryoke
Aug 19, 2015·International Journal of Pediatric Otorhinolaryngology·Nazanin JalilianMohammad Reza Noori-Daloii
Feb 4, 2010·Human Mutation·Véronique PingaultNadège Bondurand
Oct 26, 1999·Journal of AAPOS : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus·E I Traboulsi
Nov 18, 2005·European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society·Harvey B Sarnat
Feb 3, 2004·American Journal of Medical Genetics. Part a·Cathy A Stevens, William B Dobyns
Apr 7, 2020·Genetic Testing and Molecular Biomarkers·Shuling LiRuomei Li
Oct 12, 1999·International Journal of Dermatology·A L DourmishevC K Janniger
Jul 19, 2003·Clinical Dysmorphology·Emma L WakelingSusan E Holder
May 27, 2021·International Journal of Pediatric Otorhinolaryngology·Min GuoBiao Ruan

❮ 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.