Genetic Heterogeneity in Autosomal Dominant Pseudohypoaldosteronism Type I: Exclusion of Claudin-8 as a Candidate Gene

2004 ◽  
Vol 24 (5) ◽  
pp. 483-487 ◽  
Author(s):  
Catherine L. Huey ◽  
Felix G. Riepe ◽  
Wolfgang G. Sippell ◽  
Alan S.L. Yu
Keyword(s):  
Candidate Gene ◽  
Genetic Heterogeneity ◽  
Autosomal Dominant ◽  
Type I ◽  
Pseudohypoaldosteronism Type

Mutations in the mineralocorticoid receptor gene cause autosomal dominant pseudohypoaldosteronism type I

10.1038/966 ◽  
1998 ◽  
Vol 19 (3) ◽  
pp. 279-281 ◽  
Author(s):  
David S. Geller ◽  
Juan Rodriguez-Soriano ◽  
Alfredo V. Boado ◽  
Søren Schifter ◽  
Milan Bayer ◽  
...  
Keyword(s):  
Mineralocorticoid Receptor ◽  
Autosomal Dominant ◽  
Receptor Gene ◽  
Type I ◽  
Pseudohypoaldosteronism Type

Phenotypic variability in autosomal dominant cerebellar ataxia type I is unrelated to genetic heterogeneity

Brain ◽  
1993 ◽  
Vol 116 (6) ◽  
pp. 1497-1508 ◽  
Author(s):  
A. Durr ◽  
H. Chneiweiss ◽  
C. Khati ◽  
G. Stevanin ◽  
G. Cancel ◽  
...  
Keyword(s):  
Cerebellar Ataxia ◽  
Genetic Heterogeneity ◽  
Autosomal Dominant ◽  
Phenotypic Variability ◽  
Autosomal Dominant Cerebellar Ataxia ◽  
Type I

Genetic heterogeneity of autosomal dominant cerebellar ataxia type I: evidence for the existence of a third locus

1993 ◽  
Vol 2 (9) ◽  
pp. 1483-1485 ◽  
Author(s):  
Glovanni Stevanin ◽  
Hervé Chnelweiss ◽  
Eric Le Guern ◽  
Nicola Ravise ◽  
Alexandra Dürr ◽  
...  
Keyword(s):  
Cerebellar Ataxia ◽  
Genetic Heterogeneity ◽  
Autosomal Dominant ◽  
Autosomal Dominant Cerebellar Ataxia ◽  
Type I

The Genetic Defect of Type I von Willebrand Disease “Vicenza” Is Linked to the von Willebrand Factor Gene

1993 ◽  
Vol 69 (02) ◽  
pp. 173-176 ◽  
Author(s):  
Anna M Randi ◽  
Elisabetta Sacchi ◽  
Gian Carlo Castaman ◽  
Francesco Rodeghiero ◽  
Pier Mannuccio Mannucci
Keyword(s):  
Von Willebrand Factor ◽  
Autosomal Dominant ◽  
Genetic Defect ◽  
Von Willebrand Disease ◽  
Type I ◽  
Bleeding Tendency ◽  
Factor Gene ◽  
Low Levels ◽  
Von Willebrand ◽  
Willebrand Factor

SummaryType I von Willebrand disease (vWD) Vicenza is a rare variant with autosomal dominant transmission, characterized by the presence of supranormal von Willebrand factor (vWF) multimers in plasma, similar to those normally found in endothelial cells and megakaryocytes. The patients have very low levels of plasma vWF contrasting with a mild bleeding tendency. The pathophysiology of this subtype is still unknown. The presence of supranormal multimers in the patients’ plasma could be due to a mutation in the vWF molecule which affects post-translational processing, or to a defect in the cells’ processing machinery, independent of the vWF molecule. In order to determne if type I vWD Vicenza is linked to the vWF gene, we studied six polymorphic systems identified within the vWF gene in two apparently unrelated families with type I vWD Vicenza. The results of this study indicate a linkage between vWF gene and the type I vWD Vicenza trait. This strongly suggests that type I vWD Vicenza is due to a mutation in one of the vWF alleles, which results in an abnormal vWF molecule that is processed to a lesser extent than normal vWF.

Evidence of genetic heterogeneity in congenital dyserythropoietic anaemia type I

2006 ◽  
Vol 133 (4) ◽  
pp. 444-445 ◽  
Author(s):  
Momin R. Ahmed ◽  
Mohamed Zaki ◽  
Mohamed A. Sabry ◽  
Douglas Higgs ◽  
Paresh Vyas ◽  
...  
Keyword(s):  
Genetic Heterogeneity ◽  
Type I

scholarly journals Functional IRF3 deficiency in a patient with herpes simplex encephalitis

2015 ◽  
Vol 212 (9) ◽  
pp. 1371-1379 ◽  
Author(s):  
Line Lykke Andersen ◽  
Nanna Mørk ◽  
Line S. Reinert ◽  
Emil Kofod-Olsen ◽  
Ryo Narita ◽  
...  
Keyword(s):  
Herpes Simplex ◽  
Autosomal Dominant ◽  
Viral Infections ◽  
Herpes Simplex Encephalitis ◽  
Type I ◽  
Toll Like Receptor ◽  
Loss Of Function ◽  
Impaired Ability ◽  
Increased Susceptibility ◽  
Hsv 1

Herpes simplex encephalitis (HSE) in children has previously been linked to defects in type I interferon (IFN) production downstream of Toll-like receptor 3. Here, we describe a novel genetic etiology of HSE by identifying a heterozygous loss-of-function mutation in the IFN regulatory factor 3 (IRF3) gene, leading to autosomal dominant (AD) IRF3 deficiency by haploinsufficiency, in an adolescent female patient with HSE. IRF3 is activated by most pattern recognition receptors recognizing viral infections and plays an essential role in induction of type I IFN. The identified IRF3 R285Q amino acid substitution results in impaired IFN responses to HSV-1 infection and particularly impairs signaling through the TLR3–TRIF pathway. In addition, the R285Q mutant of IRF3 fails to become phosphorylated at S386 and undergo dimerization, and thus has impaired ability to activate transcription. Finally, transduction with WT IRF3 rescues the ability of patient fibroblasts to express IFN in response to HSV-1 infection. The identification of IRF3 deficiency in HSE provides the first description of a defect in an IFN-regulating transcription factor conferring increased susceptibility to a viral infection in the CNS in humans.

scholarly journals Identification of candidate gene FAM183A and novel pathogenic variants in known genes: High genetic heterogeneity for autosomal recessive intellectual disability

PLoS ONE ◽  
2018 ◽  
Vol 13 (11) ◽  
pp. e0208324 ◽  
Author(s):  
Megan McSherry ◽  
Katherine E. Masih ◽  
Nursel H. Elcioglu ◽  
Pelin Celik ◽  
Ozge Balci ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Candidate Gene ◽  
Genetic Heterogeneity ◽  
Autosomal Recessive ◽  
Pathogenic Variants

Extensive Genetic Heterogeneity in Autosomal Dominant Retinitis Pigmentosa

1993 ◽  
pp. 63-77 ◽  
Author(s):  
G. Jane Farrar ◽  
Siobhán A. Jordan ◽  
Rajendra Kumar-Singh ◽  
Chris F. Inglehearn ◽  
Andreas Gal ◽  
...  
Keyword(s):  
Retinitis Pigmentosa ◽  
Genetic Heterogeneity ◽  
Autosomal Dominant ◽  
Autosomal Dominant Retinitis Pigmentosa
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