Browsing Bergen Open Research Archive by Author "Houge, Gunnar"
Now showing items 1-5 of 5
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Dominant ARL3-related retinitis pigmentosa
Holtan, Josephine Prener; Teigen, Knut; Aukrust, Ingvild; Bragadottir, Ragnheidur; Houge, Gunnar (Peer reviewed; Journal article, 2019)Purpose: To clinically and genetically characterise a second family with dominant ARL3-related retinitis pigmentosa due to a specific ARL3 missense variant, p.(Tyr90Cys). Methods: Clinical examination included optical ... -
The intronic BRCA1 c.5407-25T>A variant causing partly skipping of exon 23—a likely pathogenic variant with reduced penetrance?
Vetti, Hildegunn Høberg; Ognedal, Elisabet; Buisson, Adrien; Vamre, Tone Bøe Aaman; Ariansen, Sarah; Hoover, Jacqueline M.; Eide, Geir Egil; Houge, Gunnar; Fiskerstrand, Torunn; Haukanes, Bjørn Ivar; Bjorvatn, Cathrine; Knappskog, Per Morten (Peer reviewed; Journal article, 2020-03-20)Rare sequence variants in the non-coding part of the BRCA genes are often reported as variants of uncertain significance (VUS), which leave patients and doctors in a challenging position. The aim of this study was to ... -
Mosaicism for combined tetrasomy of chromosomes 8 and 18 in a dysmorphic child: A result of failed tetraploidy correction?
Houge, Gunnar; Lybæk, Helle; Gulati, Sasha (Peer reviewed; Journal article, 2009-05-18)Background: Mosaic whole-chromosome tetrasomy has not previously been described as a cause of fetal malformations. Case presentation: In a markedly dysmorphic child with heart malformations and developmental delay, CGH ... -
NAA10 dysfunction with normal NatA-complex activity in a girl with non-syndromic ID and a de novo NAA10 p.(V111G) variant - a case report
Mc Tiernan, Nina; Støve, Svein Isungset; Aukrust, Ingvild; Mårli, Marita Torrissen; Myklebust, Line Merethe; Houge, Gunnar; Arnesen, Thomas (Peer reviewed; Journal article, 2018)Background: The NAA10-NAA15 (NatA) protein complex is an N-terminal acetyltransferase responsible for acetylating ~ 40% of eukaryotic proteins. In recent years, NAA10 variants have been found in patients with an X-linked ... -
Population prevalence and inheritance pattern of recurrent CNVs associated with neurodevelopmental disorders in 12,252 newborns and their parents
Smajlagic, Dinka; Lavrichenko, Ksenia; Berland, Siren; Helgeland, Øyvind; Knudsen, Gun Peggy Strømstad; Vaudel, Marc; Haavik, Jan; Knappskog, Per; Njølstad, Pål Rasmus; Houge, Gunnar; Johansson, Stefan (Journal article; Peer reviewed, 2020)Recurrent copy number variations (CNVs) are common causes of neurodevelopmental disorders (NDDs) and associated with a range of psychiatric traits. These CNVs occur at defined genomic regions that are particularly prone ...