PMID: 11343323May 9, 2001Paper

Century of Jackson-Weiss syndrome: further definition of clinical and radiographic findings in "lost" descendants of the original kindred

American Journal of Medical Genetics
C HeikeM Cunningham

Abstract

Jackson-Weiss syndrome (JWS) is a condition consisting of craniosynostosis characterized by premature fusion of the cranial sutures and/or characteristic radiographic anomalies of the feet. The condition is inherited as an autosomal dominant trait with high penetrance and variable expressivity. Six different mutations in the fibroblast growth factor receptor 2 have been identified in patients with the clinical diagnosis of JWS. Jabs et al. [1994: Nat Genet 8:275-279] identified an Ala344Gly substitution in two branches of the family in which the clinical syndrome was originally described. This is the only publication to document this mutation in a family with the clinical diagnosis of JWS. In this study, we have identified a previously unrecognized branch of the original family with individuals that meet the clinical criteria for the diagnosis of JWS. We demonstrate that a mutation that produces the Ala344Gly substitution is present in affected members. This family illustrates the widely variable expression of the mutation, including a novel phenotype in the proband with a leg-length discrepancy and unilateral absence of the fifth digital ray in her right foot. We identify the clinical and detailed radiographic features of each...Continue Reading

References

Jan 1, 1992·Advances in Cancer Research·C Basilico, D Moscatelli
Apr 10, 1995·American Journal of Medical Genetics·M M Cohen
Jun 14, 1996·American Journal of Medical Genetics·M M Cohen
Feb 1, 1997·Human Genetics·G E HollwayJ C Mulley
Jul 29, 1999·Human Mutation·M R Passos-BuenoH Kitoh
Sep 9, 2000·Journal of Medical Genetics·W Reardon

❮ Previous
Next ❯

Citations

Aug 9, 2012·Child's Nervous System : ChNS : Official Journal of the International Society for Pediatric Neurosurgery·Nneamaka B AgochukwuMaximilian Muenke
Nov 21, 2007·Current Opinion in Pediatrics·Michael L Cunningham, Carrie L Heike
Aug 31, 2014·Atlas of the Oral and Maxillofacial Surgery Clinics of North America·Carolyn Dicus BrookesTimothy A Turvey
Dec 3, 2014·International Journal of Pediatric Otorhinolaryngology·Nneamaka B AgochukwuMaximilian Muenke
Apr 15, 2005·Seminars in Pediatric Neurology·Kirk Aleck
May 9, 2001·American Journal of Medical Genetics·M M Cohen
Jan 15, 2011·The Journal of Craniofacial Surgery·Adrianna RangerSharan Goobie
Jun 8, 2007·Orthodontics & Craniofacial Research·Machael L CunninghamAnne V Hing
Jan 7, 2021·Child's Nervous System : ChNS : Official Journal of the International Society for Pediatric Neurosurgery·Cassio Eduardo Raposo-AmaralEnrico Ghizoni

❮ 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.