Christine Fauth
A5081570084- Genomic variations and chromosomal abnormalities
- Chromosomal and Genetic Variations
- Prenatal Screening and Diagnostics
- Genomics and Chromatin Dynamics
- Genomics and Rare Diseases
- Genetics and Neurodevelopmental Disorders
- Cancer Genomics and Diagnostics
- Connective tissue disorders research
- Peptidase Inhibition and Analysis
- Mitochondrial Function and Pathology
- RNA modifications and cancer
- Neurofibromatosis and Schwannoma Cases
- Ubiquitin and proteasome pathways
- Skin and Cellular Biology Research
- Chromatin Remodeling and Cancer
- Cancer-related Molecular Pathways
- Metabolism and Genetic Disorders
- Protein Tyrosine Phosphatases
- DNA Repair Mechanisms
- RNA Research and Splicing
- Transcranial Magnetic Stimulation Studies
- Fetal and Pediatric Neurological Disorders
- Genetic factors in colorectal cancer
- Vascular Malformations Diagnosis and Treatment
- Genetic Syndromes and Imprinting
Innsbruck Medical University
2015-2025
Universität Innsbruck
2011-2022
Hudson Institute
2017
Paracelsus Medical University
2010
National Center on Birth Defects and Developmental Disabilities
2010
Technical University of Munich
1992-2006
Institut de Génétique Humaine
2005
Klinikum rechts der Isar
2003
Ludwig-Maximilians-Universität München
1994-2001
Praxis für Humangenetik
2000-2001
Studies of higher-order chromatin arrangements are an essential part ongoing attempts to explore changes in epigenome structure and their functional implications during development cell differentiation. However, the extent cell-type-specificity three-dimensional (3D) chromosome has remained controversial. In order overcome technical limitations previous studies, we have developed tools that allow quantitative 3D positional mapping all chromosomes simultaneously. We present unequivocal...
We investigated the nuclear higher order compartmentalization of chromatin according to its replication timing (Ferreira et al. 1997) and relations this chromosome structure spatial organization transcription. Our aim was provide a comprehensive integrated view on between functional architecture. Using different mammalian cell types, we show that distinct compartments whose DNA displays specific are stably maintained during all interphase stages. The organizational principle is clonally...
Multiple endocrine neoplasia type 2 is characterized by germline mutations in RET. For exon 10, comprehensive molecular and corresponding phenotypic data are scarce. The International RET Exon 10 Consortium, comprising 27 centers from 15 countries, analyzed patients with for clinical-risk profiles. Presentation, age-dependent penetrance, stage at presentation of medullary thyroid carcinoma (MTC), pheochromocytoma, hyperparathyroidism were studied. A total 340 subjects 103 families, age 4–86,...
We report 281 individuals carrying a pathogenic recurrent NF1 missense variant at p.Met1149, p.Arg1276, or p.Lys1423, representing three nontruncating hotspots in the University of Alabama Birmingham (UAB) cohort, together identified 1.8% unrelated individuals. About 25% (95% confidence interval: 20.5–31.2%) heterozygous for p.Lys1423 had Noonan-like phenotype, which is significantly more compared with "classic" NF1-affected cohorts (all p < .0001). Furthermore, p.Arg1276 and variants were...
Primary coenzyme Q10 (CoQ10) deficiencies are rare, clinically heterogeneous disorders caused by mutations in several genes encoding proteins involved CoQ10 biosynthesis. is an essential component of the electron transport chain (ETC), where it shuttles electrons from complex I or II to III. By whole-exome sequencing, we identified five individuals carrying biallelic COQ4. The precise function human COQ4 not known, but seems play a structural role stabilizing multiheteromeric that contains...
Tatton-Brown-Rahman syndrome (TBRS; OMIM 615879), also known as the DNMT3A-overgrowth syndrome, is an overgrowth intellectual disability first described in 2014 with a report of 13 individuals constitutive heterozygous DNMT3A variants. Here we have undertaken detailed clinical study 55 de novoDNMT3A variants, including previously reported individuals. An and were >80% TBRS designated major associations. Additional frequent associations (reported 20-80% individuals) included evolving facial...
PurposePhenotype information is crucial for the interpretation of genomic variants. So far it has only been accessible bioinformatics workflows after encoding into clinical terms by expert dysmorphologists.MethodsHere, we introduce an approach driven artificial intelligence that uses portrait photographs exome data. We measured value added computer-assisted image analysis to diagnostic yield on a cohort consisting 679 individuals with 105 different monogenic disorders. For each case in...
<h3>Background</h3> Williams–Beuren syndrome (WBS) is a developmental disorder with multisystemic manifestations mainly characterised by vascular stenoses, distinctive craniofacial features, mental retardation characteristic neurocognitive profile, and some endocrine connective tissue abnormalities, caused recurrent deletion of 1.55 Mb including 26–28 genes at chromosomal region 7q11.23. The analysis clinical–molecular correlations in few reported atypical patients has been useful to propose...
Abstract Cerebral cavernous malformations ( CCM ) are prevalent vascular occurring in familial autosomal dominantly inherited or isolated forms. Once diagnosed by magnetic resonance imaging, the indication for genetic testing requires either a positive family history of lesions clinical symptoms such as chronic headaches, epilepsy, neurological deficits, and hemorrhagic stroke occurrence multiple an case. Following these inclusion criteria, mutation detection rates consecutive series 105...
The combination of febrile illness-induced encephalopathy and rhabdomyolysis has thus far only been described in disorders that affect cellular energy status. In the absence specific metabolic abnormalities, diagnosis can be challenging.The objective this study was to identify characterise pathogenic variants two individuals from unrelated families, both whom presented clinically with a similar phenotype included neurodevelopmental delay, episodes rhabdomyolysis, followed by developmental...
Hypomorphic germline mutations in the PIGA (phosphatidylinositol glycan class A) gene recently were recognized as cause of a clinically heterogeneous spectrum X‐linked disorders including (i) early onset epileptic encephalopathy with severe muscular hypotonia, dysmorphism, multiple congenital anomalies, and death (“MCAHS2”), (ii) neurodegenerative systemic iron overload (ferro‐cerebro‐cutaneous syndrome, “FCCS”), (iii) intellectual disability seizures without dysmorphism. Previous studies...
PurposeIn 2012 we reported in six individuals a clinical condition almost indistinguishable from PLOD1-kyphoscoliotic Ehlers-Danlos syndrome (PLOD1-kEDS), caused by biallelic mutations FKBP14, and characterized progressive kyphoscoliosis, myopathy, hearing loss addition to connective tissue abnormalities such as joint hypermobility hyperelastic skin. FKBP14 is an ER-resident protein belonging the family of FK506-binding peptidyl-prolyl cis-trans isomerases (PPIases); it catalyzes folding...