Disruption of granulocyte/macrophage colony-stimulating factor (GM-CSF) signaling causes pulmonary alveolar proteinosis (PAP) characterized by excessive accumulation of surfactant in the lung. To date, adult-onset congenital PAP has not been reported. We found the first adult-onset patient with GM-CSF-Rβc deficiency, diagnosed as PAP pathologically at age 36. She had diminished GM-CSF-dependent signaling and functions in leukocytes […]
Latest articles
Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy
Otto et al. describe a next generation sequencing strategy to identify mutations in 120 patients affected with a rare cystic kidney disease. The strategy employed involves pooling the DNA of 24 patients, amplyfiying the exons (376) of 18 implicated genes, and next-generation sequence analysis. The strategy is quite specific and successful, confirming 92% of mutations […]
Genetic architecture of open-angle glaucoma and related determinants
Open-angle glaucoma (OAG) is a major sight-threatening disease worldwide. For long, only rare variants implicated in familial forms were known, but recently common variants were discovered. This raises the question whether OAG is genetically determined by many rare major mutations or also by multiple common variants (i.e. a polygenic model). In this study, genome-wide common […]
GeneScreen: a program for high-throughput mutation detection in DNA sequence electropherograms
As DNA sequencing technology has improved over recent years, operator time has become the rate-limiting factor for mutation detection and error checking, and hence a large determinant of the cost of mutation analysis. GeneScreen is a new desktop computer programme that facilitates rapid analysis of large batches of capillary electropherograms, identifying sequence variants for operator […]
Adaptor protein complex-4 (AP-4) deficiency causes a novel autosomal recessive cerebral palsy syndrome with microcephaly and intellectual disability
Cerebral palsy (CP), the most common physical disability of childhood, is a group of neurodevelopmental disorders of movement and posture often associated with cognitive and behavioral disturbances. Although CP has been attributed to several factors, the cause of most cases remains unknown. Birth asphyxia, long considered the most frequent risk factor, accounts for <10% of […]
Uptake of breast cancer prevention and screening trials
Evans et al publish figures again showing disappointingly low recruitment rates of women at high risk of breast cancer to prevention trials. Of 4359 women invited to 5 different drug or dietary prevention trials only 5-13% decided to join the study concerned. In contrast uptake to two mammography screening trials was >95%. If we are […]
Variants in CFTR untranslated regions are associated with congenital bilateral absence of the vas deferens
Dysfunctions of the Cystic Fibrosis Transmembrane conductance regulator (CFTR) gene are responsible for the highly variable clinical presentation ranging from severe Cystic Fibrosis to male infertility due to congenital bilateral absence of the vas deferens (CBAVD). Despite extensive scanning, a small proportion of the CFTR mutations remains unidentified. We performed the functional analyses of a […]
Modeling the genetic risk prediction of type 1 diabetes
Modeling the genetic risk prediction of type 1 diabetes Matthew Tien1 and Hui-Qi Qu2 1 University of Texas at Austin, School of Biological Sciences; 2 University of Texas Health Science Center Houston, School of Public Health Genome-Wide Association Studies (GWAS) perform genome-wide analysis of individuals to screen for single nucleotide polymorphisms (SNP); such studies […]
Genetic issues in BCG Vaccination
Disseminated BCG infection is a genetic disease, caused by a mutation in one of the specific genes involved in the immune response to mycobacterial infection. […]
Welcome to JMG Contact
The editorial team of the Journal of Medical Genetics has set up this virtual space as a communications tool that, we hope, will bring us closer to our public. Ten years ago I would have said “closer to our readership”; but the technological and conceptual developments of the past decade warrant some stepping back and […]