Association of a genetic variant of BTN2A1 with metabolic syndrome in East Asian populations

This study examined the relation of rs6929846 of BTN2A1 to metabolic syndrome (MetS) in 5210 Japanese or Korean individuals from three independent subject panels. The genotype distributions and allele frequencies of rs6929846 were significantly associated with MetS in Japanese subject panels A and B, but not in Korean individuals. Multivariable logistic regression analysis revealed that […]

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Patient’s perspective on the revised Ghent nosology for Mafan syndrome

On our website, every article has a Submit a Response link and the resulting e-letters are published on-line without editorial evaluation, other than checking for offensive content or copyright infringement. The feature is meant for post-publication peer-review of a scholarly nature but, occasionally, is used by members of the public—usually individuals with a stake in […]

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Biallelic MLH1 SNP cDNA expression or constitutional promoter methylation can hide genomic rearrangements causing Lynch-syndrome

10-15% of patients suspected of Lynch-syndrome are mutation-negative in routine diagnostics. We identified the first paracentric inversion between the flanking genes MLH1 and LRRFIP2 flipping the genomic configuration without exonic deletion in creating two novel fusion transcripts, which even camouflaged monoallelic MLH1-deficiency when analysing only one common SNP in MLH1. Only insisting detailed analysis of […]

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Identification of quantitative trait loci for murine autoimmune pancreatitis

Autoimmune pancreatitis (AIP) represents a rare but clinically relevant cause of pancreatic inflammation with largely unknown pathogenesis. Here, we have established an advanced intercross line of AIP-susceptible and resistant mouse strains to study the genetic basis of the disease. Therefore, generation G4 of outbread intercross mice was characterized phenotypically by scoring histopathological changes of the […]

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Efficiency of translation termination in humans is highly dependent upon nucleotides in the neighbourhood of a (premature) termination codon

Junctional epidermolysis bullosa, a congenital disease characterized by widespread skin blistering, chronic wounds, loss of fluid and proteins, and severe infections, is caused by mutations in the genes LAMA3, LAMB3 and LAMC2. Individuals with mutations creating a premature termination codon (PTC) on both alleles of the respective gene usually die in infancy. In a patient carrying such a pair of PTC […]

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Linkage and association analysis of hyperthyrotropinaemia in an Alpine population reveal two novel loci on chromosomes 3q28-29 and 6q26-27

To identify genes contributing to hyperthyrotropinemia and clinical hypothyroidism, we performed linkage analysis on 1,258 individuals from three semi-isolated Alpine villages. Cases were defined based on TSH levels (TSH ≥ 4.6 mU/L and TSH > 3.0 mU/L) and medical treatment while having normal/low fT4 levels. Two peaks on chromosomes 3q28-29 and 6q26-27 were identified. SNP- […]

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Detection of APC germ line mosaicism in patients with de novo familial adenomatous polyposis: a plea for the PTT

Current recommendations for APC mutation analysis in patients with familial adenomatous polyposis (FAP) advise full gene sequencing and gene dosage analysis replacing the protein truncation test (PTT) as a pre-screening tool. Here we report on two unrelated patients with classical FAP and unremarkable family history in whose leukocyte-derived DNA no pathogenic APC mutations could be […]

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Predicting PTEN mutations: an evaluation of Cowden syndrome and Bannayan–Riley–Ruvalcaba syndrome clinical features

Cowden syndrome (CS) is an important hereditary cancer syndrome, is caused by mutations in the PTEN gene, which causes significantly increased risks for breast, thyroid, uterine and perhaps colon cancers.  Since 1996 the clinical diagnosis of CS has been based upon criteria established by a research consortium. These criteria, however, have not been rigorously examined […]

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NLRP7 in the spectrum of reproductive wastage: rare non-synonymous variants confer genetic susceptibility to recurrent reproductive wastage

Mutations in NLRP7, a gene with a predicted role in inflammation and apoptosis, are responsible for recurrent molar pregnancies. In this study we report NLRP7 mutations in women with sporadic non-recurrent moles and in women with recurrent spontaneous abortions and no moles. We show that some rare NLRP7 variants, present in the general population, are […]

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