A5005133378- Connective tissue disorders research
- Genetics and Neurodevelopmental Disorders
- Genomic variations and chromosomal abnormalities
- Ubiquitin and proteasome pathways
- Neurofibromatosis and Schwannoma Cases
- Bone Tumor Diagnosis and Treatments
- Genetic Syndromes and Imprinting
- Hedgehog Signaling Pathway Studies
- Oral and Maxillofacial Pathology
- Scoliosis diagnosis and treatment
- Metabolism and Genetic Disorders
- interferon and immune responses
- Glycosylation and Glycoproteins Research
- Hip disorders and treatments
- Meningioma and schwannoma management
- Soft tissue tumor case studies
- RNA modifications and cancer
- Congenital Ear and Nasal Anomalies
- Genetic and Kidney Cyst Diseases
- Congenital heart defects research
- RNA regulation and disease
- Glycogen Storage Diseases and Myoclonus
- Cancer-related gene regulation
- Congenital Diaphragmatic Hernia Studies
- Immunodeficiency and Autoimmune Disorders
Oslo University Hospital
2016-2025
University of Oslo
2012-2025
Telemark Hospital
2022
University of Manchester
2014
Jena University Hospital
2014
OsloMet – Oslo Metropolitan University
2014
Erasmus MC
2013
University of Groningen
2013
University Medical Center Groningen
2013
University of Amsterdam
2013
We aimed to determine the proportion of individuals in our schwannomatosis cohort whose disease is associated with an LZTR1 mutation.We used exome sequencing, Sanger and copy number analysis screen 65 unrelated who were negative for a germline NF2 or SMARCB1 mutation. also screened samples from 39 patients unilateral vestibular schwannoma (UVS), plus at least one other schwannoma, but did not have identifiable mosaic identified mutations 6 16 (37.5%) had affected relative, 11 49 (22%)...
Objectives This study aimed to determine healthcare needs and care use (provision of healthcare) in adults with Bardet–Biedl syndrome (BBS) the associations between physical functioning, health status outcomes distress. Design Cross-sectional study. Setting Outpatient hospital visits. Participants 30 BBS were included (50% women, aged 20–69 years) assessed Needs Provision Complexity Scale, Short Physical Performance Battery, EuroQoL five dimensions severity levels (EQ-5D-5L) Hospital Anxiety...
Abstract Myeloid neoplasms (MNs) with germline predisposition have recently been recognized as novel entities in the latest World Health Organization (WHO) classification for MNs. Individuals MNs due to exhibit increased risk development of MNs, mainly acute myeloid leukemia (AML) and myelodysplastic syndrome (MDS). Setting diagnosis MN is crucial clinical significance since it may tailor therapy, dictate selection donor allogeneic hematopoietic stem cell transplantation (allo-HSCT),...
The developmental and epileptic encephalopathies (DEE) are a heterogeneous group of chronic frequently associated with rare de novo nonsynonymous coding variants in neuronally expressed genes. Here, we describe eight probands DEE phenotype comprising intellectual disability, epilepsy, hypotonia. Exome trio analysis showed TRPM3, encoding brain-expressed transient receptor potential channel, each. Seven were identically heterozygous for recurrent substitution, p.(Val837Met), TRPM3's S4–S5...
Loss-of-function mutations in CHD7 cause Coloboma, Heart Disease, Atresia of Choanae, Retardation Growth and/or Development, Genital Hypoplasia, and Ear Abnormalities With or Without Deafness (CHARGE) syndrome, a variable combination multiple congenital malformations including heart defects. defects are reported 70% to 92% patients with mutation, but most studies small do not provide detailed classification the We present first, detailed, descriptive study on cardiac phenotype 299 mutation...
Axial spondylometaphyseal dysplasia (axial SMD) is an autosomal recessive disease characterized by of axial skeleton and retinal dystrophy. We conducted whole exome sequencing identified C21orf2 (chromosome 21 open reading frame 2) as a gene for SMD. mutations have been recently found to cause isolated degeneration Jeune syndrome. total five biallelic in six families out nine: three missense two splicing patients with various ethnic backgrounds. The pathogenic effects the (splice-site...
Abstract Schwannomatosis is a recently delineated inherited condition that has clinical overlap with neurofibromatosis type 2 (NF2). Diagnostic criteria have been developed to distinguish schwannomatosis from NF2, but the existence of mosaic which may closely mimic schwannomatosis, makes even these problematic. In particular, it not clear why there relative sparing cranial nerves schwannomas in schwannomatosis. We identified two individuals and unilateral vestibular schwannoma (VS), where...
Introduction Recent evidence has emerged linking mutations in CDK13 to syndromic congenital heart disease. We present here genetic and phenotypic data pertaining 16 individuals with mutations. Methods Patients were investigated by exome sequencing, having presented developmental delay additional features suggestive of a cause. Results Our cohort comprised aged 4–16 years. All had delay, including six autism spectrum disorder. Common findings included feeding difficulties (15/16), structural...
Abstract Background Symptomatic spinal stenosis (SSS) is a well-known medical complication in achondroplasia. The reported prevalence of SSS 10 to 30%, an estimate based on small studies or selected populations. No population-based exist currently. Furthermore, the relationship between and physical functioning has not been investigated detail. aims this study were describe Norwegian adults with achondroplasia, explore impact functioning. Methods This was community-dwelling genetically...
Microcephalic primordial dwarfism (MPD) is a class of disorders characterized by intrauterine growth restriction (IUGR), impaired postnatal and microcephaly. Majewski osteodysplastic type II (MOPD II) one the more common conditions within this group. MOPD caused truncating mutations in pericentrin (PCNT) inherited an autosomal recessive manner. Detailed curves for length, weight, OFC are presented here derived from retrospective data 26 individuals with confirmed molecular or functional...
Abstract Background Bardet–Biedl syndrome (BBS) is a rare nonmotile ciliopathy characterized by retinal dystrophy, polydactyly, obesity, genital anomalies, renal dysfunction, and learning difficulties. The objectives were to describe the retinal, oral, metabolic characteristics relevant adults with BBS as well prevalence of genetic variants. Methods A cross-sectional study 30 (15 males, 15 females, mean age 39.8 ± 13.6 years) was recruited from single centre for disorders in Norway....
Cowden syndrome (multiple hamartoma syndrome, MIM 158350) is an early onset characterized by multiple hamartomas in the skin, mucous membranes, breast, thyroid and endometrium. Patients with have increased risk of breast cancer, cancer endometrial cancer. In 1997 germline mutations PTEN were demonstrated to cause syndrome. We report results diagnostic predictive testing all families or suspected registered at Norwegian family clinics. found six meeting clinical criteria for none two assumed...
Brachyolmia is a skeletal dysplasia characterized by short spine-short stature, platyspondyly, and minor long bone abnormalities. We describe 18 patients, from different ethnic backgrounds ages ranging infancy to 19 years, with the autosomal recessive form, associated PAPSS2. The main clinical features include disproportionate stature spine variable symptoms of pain, stiffness, spinal deformity. Eight patients presented prenatally femora, whereas later in childhood their short-spine...
Congenital diaphragmatic hernia (CDH) can occur in isolation or conjunction with other birth defects (CDH+). A molecular etiology only be identified a subset of CDH cases. This is due, part, to an incomplete understanding the genes that contribute diaphragm development. Here, we used clinical and data from 36 individuals CDH+ who are cataloged DECIPHER database identify may play role development discover new phenotypic expansions. Among this group, carried putatively deleterious sequence...
Spondyloepimetaphyseal dysplasia with severe short stature, RPL13-related (SEMD-RPL13), MIM#618728), is a rare autosomal dominant disorder characterized by stature and skeletal changes such as mild spondylar epimetaphyseal affecting primarily the lower limbs. The genetic cause was first reported in 2019 Le Caignec et al., six disease-causing variants gene coding for ribosomal protein, RPL13 (NM_000977.3) have been identified to date. This study presents clinical radiographic data from 12...