Publications by authors named "Ragnhild Berentsen"
Study Question: Is it possible to find the cause of primary ovarian insufficiency (POI) in more women by extensive screening?
Summary Answer: Adding next generation sequencing techniques including a POI-associated gene panel, extended whole exome sequencing data, as well as specific autoantibody assays to the recommended diagnostic investigations increased the determination of a potential etiological diagnosis of POI from 11% to 41%.
What Is Known Already: POI affects ∼1% of women. Clinical presentations and pathogenic mechanisms are heterogeneous and include genetic, autoimmune, and environmental factors, but the underlying etiology remains unknown in the majority of cases.
Article Synopsis
- * Zinc supplementation shows promise as a treatment by reactivating GTP hydrolysis in some mutants, indicating potential for therapeutic approaches targeting these mutations.
- * This study identifies a new mutation (c.509C>G) in patients from Norway and France, producing a unique Pro170Arg variant that significantly alters GTP handling, highlighting the need for further research into effective treatments.
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 and ages ranging from infancy to 19 years, with the autosomal recessive form, associated with PAPSS2. The main clinical features include disproportionate short stature with short spine associated with variable symptoms of pain, stiffness, and spinal deformity.
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