A5030233949- Genomics and Rare Diseases
- Genetics and Neurodevelopmental Disorders
- Genomic variations and chromosomal abnormalities
- RNA regulation and disease
- Cellular transport and secretion
- RNA Research and Splicing
- Muscle Physiology and Disorders
- Genomics and Chromatin Dynamics
- Hereditary Neurological Disorders
- Cell Image Analysis Techniques
- Mitochondrial Function and Pathology
- Epigenetics and DNA Methylation
- Lysosomal Storage Disorders Research
- Nuclear Structure and Function
- Dupuytren's Contracture and Treatments
- Nail Diseases and Treatments
- Glycosylation and Glycoproteins Research
- Cell Adhesion Molecules Research
- Autism Spectrum Disorder Research
- CRISPR and Genetic Engineering
- RNA modifications and cancer
- Genetic Syndromes and Imprinting
- Biochemical and Molecular Research
- RNA and protein synthesis mechanisms
- Skin Diseases and Diabetes
Praxis für Humangenetik Tübingen
2019-2024
CeGaT (Germany)
2018-2022
Praxis für Humangenetik
2020
Marche Polytechnic University
2018
University College London
2018
<h3>Objective</h3> To characterize the neurologic phenotypes associated with <i>COL4A1/2</i> mutations and to seek genotype–phenotype correlation. <h3>Methods</h3> We analyzed clinical, EEG, neuroimaging data of 44 new 55 previously reported patients <i>COL4A1/COL4A2</i> mutations. <h3>Results</h3> Childhood-onset focal seizures, frequently complicated by status epilepticus resistance antiepileptic drugs, was most common phenotype. EEG typically showed epileptiform discharges in context...
Chromatin is essentially an array of nucleosomes, each which consists the DNA double-stranded fiber wrapped around a histone octamer. This organization supports cellular processes such as replication, transcription, and repair in all eukaryotes. Human H4 encoded by fourteen canonical genes, differing at nucleotide level but encoding invariant protein. Here, we present cohort 29 subjects with de novo missense variants six genes (H4C3, H4C4, H4C5, H4C6, H4C9, H4C11) identified whole-exome...
Abstract Native American myopathy (NAM) is an autosomal recessive congenital myopathy, up till now exclusively described in Lumbee Indians who harbor one single homozygous mutation (c.1046G>C, pW284S) the STAC3 gene, encoding a protein important for proper excitation–contraction coupling muscle. Here, we report first non-Amerindian patient of Turkish ancestry, being compound heterozygous mutations c.862A>T (p.K288*) and c.432+4A>T (aberrant splicing with skipping exon 4). Symptoms...
The beta-actin gene encodes 1 of 6 different actin proteins. De novo heterozygous missense mutations in ACTB have been identified patients with Baraitser-Winter syndrome (BRWS) and also developmental disorders other than BRWS, such as deafness, dystonia, neutrophil dysfunction. We describe 2 novel de mutations, c.208C>G (p.Pro70Ala) c.511C>T (p.Leu171Phe), found by trio exome sequencing analysis unrelated patients: an 8-year-old boy a suspected BRWS 4-year-old girl unclear disorder. mutated...
There is no clearly established association between the gene NUP188 and human pathology. Only a few reports of patients with different clinical presentation heterozygous or compound missense splice region variants have been identified in several sequencing projects; however, causative features has not established. For first time, we report 2 unrelated homozygous nonsense NUP188, p.Tyr96* p.Gln113*, respectively. Although having supposedly truncating mutations, presented strikingly comparable...
Abstract Webb–Dattani syndrome (WEDAS) is an autosomal recessive disorder caused by mutation in the ARNT2 gene characterized frontotemporal hypoplasia, globally delayed development, and pituitary hypothalamic insufficiency. The condition reported to be associated with consanguinity Saudi Arabian ancestry. Here we describe a family of three affected siblings born healthy second cousin parents children presented at 3 months age congenital central hypotonia hypoventilation, diabetes insipidus,...
Objective To determine the potential disease association between variants in LMBRD2 and complex multisystem neurological developmental delay phenotypes. Methods Here we describe a series of de novo missense 10 unrelated individuals with overlapping features. Exome sequencing or genome was performed on all individuals, cohort assembled through GeneMatcher. Results encodes an evolutionary ancient widely expressed transmembrane protein no known association, although two paralogues are involved...
Despite significant advances in knowledge over recent decades, the role of most protein-coding genes remains unknown. Exome sequencing continues to provide opportunities improve our current understanding human genome by elucidating novel genotype-phenotype associations.