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 […]
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- […]
Type 2 Diabetes: An Alarming Disease in Mexican-Americans
Type 2 Diabetes: An Alarming Disease in Mexican-Americans Melanie F. Molina University of Texas at Austin, School of Biological Sciences ¡Atención compadres! There’s a new villain in town. It’s a disease doctors are still trying to pin down. Type 2 Diabetes, perhaps it’s hard to believe. But hear it now, before turning to leave! […]
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 […]
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 […]
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 […]
XX males SRY negative: a confirmed cause of infertility
Males with a 46,XX karyotype have in most of the cases the SRY gene translocated to one X chromosome. SRY initiates the cascade leading to testis differentiation having SOX9 gene as first target. We present two XX brothers with normal male differentiation, hypotrophic testes and azoospermia, both negative to SRY. Array-CGH identified an amplification of […]
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 […]
Determining the frequency of de novo germline mutations in DNA mismatch repair genes
People, who carry a mutation in a DNA mismatch repair (MMR) gene i.e. people with Lynch syndrome, have a high risk of bowel, uterus and several other cancers. The proportion of these people whose mutation is de novo (not inherited from either parent) is not known. In this paper, we report six bowel cancer cases […]