Blar i Faculty of Medicine på forfatter "Houge, Gunnar"
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Deep exploration of a CDKN1C mutation causing a mixture of Beckwith-Wiedemann and IMAGe syndromes revealed a novel transcript associated with developmental delay
Berland, Siren; Haukanes, Bjørn Ivar; Juliusson, Petur Benedikt; Houge, Gunnar (Journal article; Peer reviewed, 2022)Background: Loss-of-function mutations in CDKN1C cause overgrowth, that is, Beckwith-Wiedemann syndrome (BWS), while gain-of-function variants in the gene’s PCNA binding motif cause a growth-restricted condition called ... -
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 ... -
Evidence for anticipation in Beckwith-Wiedemann syndrome
Berland, Siren; Appelbäck, Mia Sanby; Bruland, Ove; Beygo, Jasmin; Buiting, Karin; Mackay, Deborah J.G.; Temple, I. Karen; Houge, Gunnar (Journal article; Peer reviewed, 2013)Classical Beckwith–Wiedemann syndrome (BWS) was diagnosed in two sisters and their male cousin. The children’s mothers and a third sister were tall statured (178, 185 and 187 cm) and one had mild BWS features as a child. ... -
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 ... -
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 ...