Chordoma is an age-dependent bone cancer that is rare in children. Reports of chordoma in children with TSC, an autosomal dominant neurocutaneous syndrome, suggest a biological relationship between the two diseases. We compared 10 children reported with TSC and chordoma to 65 pediatric chordoma cases reported to 17 US population-based cancer registries in SEER. The […]
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Rapid identification of mutations in GJC2 in primary lymphoedema using whole exome sequencing combined with linkage analysis with delineation of the phenotype
Lymphoedema is swelling of parts of the body due to a failure of the lymph vessels. The lymph system takes up fluid from the tissues, and transports cells that fight against infection round the body. This paper describes the identification of a gene which can cause lymphoedema. A newly developed technique known as whole exome […]
GENOTYPE-PHENOTYPE STUDY OF FAMILIAL HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS TYPE 3
Familial Hemophagocytic Lymphohistiocytosis (FHL) is a rare immunodeficiency causing insufficient defence of the child or infant from infections, through defective killing of virus-infected and stimulating dendritic cells. The clinical picture resembles leukemia; final diagnosis comes from specific immune tests and mutation analysis. Among FHL-related genes recognized since 1999, UNC13D is responsible for a wide proportion […]
What did we learn from the genome-wide association study for tuberculosis susceptibility?
A well-designed and rigorous genome-wide association study (GWAS) on tuberculosis (TB) susceptibility provided an opportunity to examine the genetic association from previously reported TB candidate genes. We performed a simulation study based on the Wellcome Trust Case-Control Consortium (WTCCC) TB GWAS data. As shown by our simulation results, the previously reported TB candidate genes were […]
Chromosome fragility in Fanconi anemia patients: diagnostic implications and clinical impact
Fanconi anemia (FA) is a rare syndrome characterized by bone marrow failure, malformations, and cancer predisposition. Chromosome fragility induced by DNA interstrand crosslink (ICL)-inducing drugs is the gold standard diagnostic test for FA. We present data from 198 chromosome fragility tests and propose a new chromosome fragility index that provides a cut-off diagnostic level to […]
TMEM70 mutations are a common cause of nuclear encoded ATP synthase assembly defect: further delineation of a new syndrome
Complex V of the respiratory chain (also termed ATP Synthase) is the final step in this process cellular energy production in the form of ATP molecules. TMEM70 gene defects were recently shown to cause ATP synthase deficiency in several patients of gypsy origin. In this study we describe six Israeli patients caused by four novel […]
The inversa type of recessive dystrophic epidermolysis bullosa is caused by specific arginine and glycine substitutions in type VII collagen
The cause of the rare inversa type of the heritable blistering disorder recessive dystrophic epidermolysis bullosa (RDEB-I) is largely unknown. In RDEB-I, patients mainly have blisters in the body flexures and trunk, as well as the mucosal membranes. To increase our knowledge about RDEB-I, we collected a series of 20 patients from the Netherlands and […]
Mosaic trisomy 13: understanding origin using SNP array
Mosaicism for trisomy of chromosome 13, the existence of normal and trisomic cells in the same individual, is a very rare syndrome in liveborns presenting with variable clinical severity. However, recent studies in IVF reveal that embryonic mosaicism is not as rare, and may also have more clinical implications than previously thought. In this study, […]
Constitutional mosaic genome-wide uniparental disomy due to diploidisation: an unusual cancer-predisposing mechanism
Beckwith-Wiedemann syndrome (BWS) is one of the commonest syndromes associated to overgrowth. It is caused, in ~10-15% of cases, by a complex mechanism called “paternal uniparental disomy (UPD)”, meaning the inheritance of two paternally derived copies of part of chromosome 11 instead of one copy from each parent. UPD may lead to loss of heterozygosity […]
Cancer and neurologic degeneration in xeroderma pigmentosum: long term follow-up characterises the role of DNA repair
Xeroderma pigmentosum (XP) is a rare, inherited disorder of defective DNA repair, which can offer insights into the mechanism of cancer development and neurologic degeneration. This long-term study of 106 XP patients at the National Institutes of Health found a 10,000-fold increase in non-melanoma skin cancer (NMSC) and a 2,000-fold increase in melanoma following sun […]