The type of mutation was nonsense mutation (one case), missense mutation (five cases), small insertion of 1 bp (one case) and splicing modifications (three cases). Among these genetic events, three were directly responsible for Glanzmann''s thrombasthenia, four were localised in regions known ...
22 Gendrot C, Bacq Y, Brechot MC, Lansac J, Andres C: A second heterozygous MDR3 nonsense mutation associated with intrahepatic cholestasis of pregnancy. J Med Genet 2003; 40: e32. 23 Mu¨ llenbach R, Linton KJ, Wiltshire S et al: ABCB4 gene sequence variation in women with ...
The mutation introduced a premature stop codon that resulted in expression of a truncated form of TF (termed TFshort) missing the second fibronectin type III and transmembrane domains. Subsequent analysis revealed that the TFshort messenger RNA (mRNA) was subject to nonsense mediated decay, which ...
Mutations resulting in premature stop codons, such as nonsense, frame shift, and splice site mutations, represent the majority of IL-12Rβ1 deficiency causing mutations (66%; 46/70). Also every other morbid mutation completely inactivates the IL-12Rβ1 protein. In addition t...
First description of a catalase-negative Staphylococcus aureus from a healthy carrier, with a novel nonsense mutation in the katA geneStaphylococcus aureuskatA geneMutationCarriageST-5The aim of this study was to assess the Staphylococcus aureus nasal carriage rate in healthy children all over Hungary...
In total, we detected 7 missense mutations, 5 frameshift mutations, and 2 nonsense mutations in 14 index patients (35%, 25%, 10%, respectively). The overall CCD phenotype varied from mild to fullblown expression. Using HOMALS, we were able to discriminate four groups of patients showing ...
Aortic elastic properties measured by TTE, MRI and pulse wave velocity were then compared between mutation carriers and non-carriers. Exome sequencing led to the identification of a 2-bp deletion inMYLK(c3272_3273del, p.Ser1091*) that led to a premature stop codon and nonsense-mediated decay...
Fifty-four families (56.8%) were type 1A mapped at 17p11.2-p12 and DNA duplication was present in 50 (92.6% of CMT1A families). One family with type 1B (1.1%) mapped at 1q22-q23 showed a point mutation of the myelin P0 gene. Eighteen families (18.9%) were type CMT2 based on ...
After termination of pregnancy, foetopathology showed a eutrophic fetus with isolated cardiomegaly. Endocardial fibroelastosis was associated with non-compaction of the myocardium of the left ventricle. Exome sequencing (ES) identified a de novo unreported p.(Gln353*) heterozygous nonsense variant ...
We also report five patients from Gran Canaria, representing the largest known group of apparently unrelated families sharing the same P406L mutation, that did not reveal a genotype‐phenotype correlation, but stressed the need of early diagnosis. All patients improved the oculo‐cutaneous lesions ...