Sophie Scheidecker
A5028225698- Genetic and Kidney Cyst Diseases
- Genomics and Rare Diseases
- Genetic Syndromes and Imprinting
- Hedgehog Signaling Pathway Studies
- Genomic variations and chromosomal abnormalities
- Genetics and Neurodevelopmental Disorders
- Connective tissue disorders research
- Biomedical Research and Pathophysiology
- Congenital heart defects research
- RNA modifications and cancer
- Ubiquitin and proteasome pathways
- Renal and related cancers
- Muscle Physiology and Disorders
- Genetic Neurodegenerative Diseases
- Prenatal Screening and Diagnostics
- Glycosylation and Glycoproteins Research
- Cardiomyopathy and Myosin Studies
- Amino Acid Enzymes and Metabolism
- Genomics and Phylogenetic Studies
- Carbohydrate Chemistry and Synthesis
- Wnt/β-catenin signaling in development and cancer
- Cellular transport and secretion
- Congenital limb and hand anomalies
- Mitochondrial Function and Pathology
- Glycogen Storage Diseases and Myoclonus
Hôpitaux Universitaires de Strasbourg
2015-2025
Université de Strasbourg
2015-2025
Inserm
2013-2025
Laboratoire de Génétique Médicale
2019-2023
Génétique Médicale & Génomique Fonctionelle
2023
Hôpital Civil, Strasbourg
2017-2022
Hôpital d'Hautepierre
2018-2020
Hôpital du Hasenrain
2011
Bardet-Biedl syndrome (BBS) is a recessive and genetically heterogeneous ciliopathy characterised by retinitis pigmentosa, obesity, kidney dysfunction, postaxial polydactyly, behavioural dysfunction hypogonadism. 7 of the 17 BBS gene products identified to date assemble together with protein BBIP1/BBIP10 into BBSome, complex that ferries signalling receptors from cilia.Exome sequencing performed on sporadic case revealed for first time homozygous stop mutation (NM_001195306: c.173T>G,...
Hyperpolarization-activated cyclic nucleotide-gated (HCN) channels control neuronal excitability and their dysfunction has been linked to epileptogenesis but few individuals with neurological disorders related variants altering HCN have reported so far. In 2014, we described five epileptic encephalopathy due de novo HCN1 variants. To delineate HCN1-related investigate genotype–phenotype correlations further, assembled a cohort of 33 unpublished patients novel pathogenic or likely variants:...
Abstract With the dramatic increase of pangenomic analysis, Human geneticists have generated large amount genomic data including millions small variants (SNV/indel) but also thousands structural variations (SV) mainly from next-generation sequencing and array-based techniques. While identification complete SV repertoire a patient is getting possible, interpretation each remains challenging. To help identifying human pathogenic SV, we developed web server dedicated to their annotation ranking...
Subtelomeric 1q43q44 microdeletions cause a syndrome associating intellectual disability, microcephaly, seizures and anomalies of the corpus callosum. Despite several previous studies assessing genotype-phenotype correlations, contribution genes located in this region to specific features remains uncertain. Among those, three genes, AKT3, HNRNPU ZBTB18 are highly expressed brain point mutations these have been recently identified children with neurodevelopmental phenotypes. In study, we...
Abstract Ciliopathies are a group of diseases that affect kidney and retina among other organs. Here, we identify missense mutation in PIK3R4 (phosphoinositide 3-kinase regulatory subunit 4, named VPS15 ) family with ciliopathy phenotype. Besides being required for trafficking autophagy, show regulates primary cilium length human fibroblasts, as well ciliary processes zebrafish. Furthermore, demonstrate its interaction the golgin GM130 localization to Golgi. The VPS15-R998Q patient impairs...
The Xq28 duplication involving the MECP2 gene (MECP2 duplication) has been mainly described in male patients with severe developmental delay (DD) associated spasticity, stereotypic movements and recurrent infections. Nevertheless, only a few series have published. We aimed to better describe phenotype of this condition, focus on morphological neurological features. Through national collaborative study, we report large French 59 affected males interstitial duplication. Most (93%) shared...
Bardet‐Biedl syndrome ( BBS ) is a well‐recognized ciliopathy characterized by cardinal features namely: early onset retinitis pigmentosa, polydactyly, obesity, hypogonadism, renal and cognitive impairment. Recently, disorders of olfaction (anosmia, hyposmia) have been also described in patients. Moreover, morphological brain anomalies reported prompt for further investigations to determine whether they are primary or secondary peripheral organ involvement (i.e. visual olfactory neuronal...
Herein, we report the screening of a large panel genes in series 80 fetuses with congenital heart defects (CHDs) and/or heterotaxy and no cytogenetic anomalies. There were 49 males (61%/39%), family history 28 cases (35%) parental consanguinity 77 (96%). All had complex CHD except one who midline anomalies while 52 (65%) addition to CHD. Altogether, 29 (36%) extracardiac extra-heterotaxy A pathogenic variant was found 10/80 (12.5%) higher percentage group (8/52 cases, 15%) compared...
We report the screening of a large panel genes in series 100 fetuses (98 families) affected with severe renal defects. Causative variants were identified 22% cases, greatly improving genetic counseling. The percentage explaining phenotype was different according to type phenotype. highest diagnostic yield found cases ciliopathy-like (11/15 families and, addition, single heterozygous or homozygous Class 3 variant PKHD1 three unrelated autosomal recessive polycystic kidney disease). lowest...
Abstract Much of the human genetics variant repertoire is composed single nucleotide variants (SNV) and small insertion/deletions (indel) but structural (SV) remain a major part our modified DNA. SV detection has often been complex question to answer either because necessity use different technologies (array CGH, SNP array, Karyotype, Optical Genome Mapping…) detect each category or get an appropriate resolution (Whole Sequencing). Thanks deluge pangenomic analysis, Human geneticists are...
Abstract Bardet‐Biedl syndrome (BBS) is a ciliopathy characterized by retinitis pigmentosa, obesity, polydactyly, cognitive impairment and renal failure. Pathogenic variants in 24 genes account for the molecular basis of >80% cases. Toward saturated discovery mutational disorder, we carefully explored our cohorts identified hominid‐specific SINE‐R/VNTR/ Alu type F (SVA‐F) insertion exon 13 BBS1 eight families. In six families, repeat was found trans with c.1169 T > G, p.Met390Arg two...
Recessive mutations in PYROXD1, encoding an oxidoreductase, were recently reported families with congenital myopathy or limb-girdle muscular dystrophy. Here we describe three novel PYROXD1 at the clinical, histological, and genetic level. Histological analyses on muscle biopsies from all revealed fiber size variability, endomysial fibrosis, fibers multiple internal nuclei cores. Further characterization of structural defects uncovered aggregations myofibrillar proteins, provided evidence for...
Ciliopathies represent a wide spectrum of rare diseases with overlapping phenotypes and high genetic heterogeneity. Among those, IFT140 is implicated in variety ranging from isolated retinis pigmentosa to more syndromic cases. Using whole-genome sequencing patients uncharacterized ciliopathies, we identified novel recurrent tandem duplication exon 27–30 (6.7 kb) IFT140, c.3454-488_4182+2588dup p.(Tyr1152_Thr1394dup), missed by whole-exome sequencing. Pathogenicity the mutation was assessed...
Mutations in genes encoding aminoacyl-tRNA synthetases have been reported several neurological disorders. KARS is a dual localized lysyl-tRNA synthetase and its cytosolic isoform belongs to the multiple complex (MSC). Biallelic mutations gene were described wide phenotypic spectrum ranging from nonsyndromic deafness impairments. Here, we report on patient with severe neurosensory disease investigated by whole-exome sequencing found carry biallelic c.683C>T (p.Pro228Leu) c.871T>G...
Abstract Bardet‐Biedl syndrome (BBS) is a rare ciliopathy with variable retinal dystrophy, polydactyly, renal abnormalities, obesity, cognitive impairment, and hypogonadism. Biallelic pathogenic variants have been identified in 24 genes, leading to BBS an autosomal recessive inheritance pattern. In this study, we investigated cohort of 16 families (20 individuals) presenting typical originating from La Réunion Island using sequencing (Sanger high‐throughput methods) SNP array. eight (12 the...