Geir J. Braathen

Telemark Hospital

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Helle Høyer

Telemark Hospital

Michael Bjørn Russell

Akershus University Hospital

ØL

Øyvind L. Busk

Telemark Hospital

Hilde Tveitan Hilmarsen

Telemark Hospital

Kristian Tveten

Telemark Hospital

ØL

Øystein L. Holla

Telemark Hospital

Camilla Furu Skjelbred

Telemark Hospital

Linda M. Strand

Telemark Hospital

Jette C Sand

Akershus University Hospital

Jane Juusola

OPKO Health (United States)

Cooperative Institutions

Inserm

University of Oslo

Ludwig-Maximilians-Universität München

Polish Academy of Sciences

Centre National de la Recherche Scientifique

Dr. John T. Macdonald Foundation

University College London

Oslo University Hospital

Mossakowski Medical Research Institute, Polish Academy of Sciences

Telemark Hospital

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Rettelse: En kvinne i 50-årene med langvarig muskelsvakhet

Tidsskrift for Den norske legeforening (2022)

Cecilie F. Rustad Kristian Tveten Geir J. Braathen Else Merckoll Eva Kirkhus

10.4045/tidsskr.22.0032

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De Novo Variants in TAOK1 Cause Neurodevelopmental Disorders

The American Journal of Human Genetics (2019)

Marija Dulovic‐Mahlow Joanne Trinh Krishna Kumar Kandaswamy Geir J. Braathen Nataliya Di Donato

Nonsense-Mediated Decay

10.1016/j.ajhg.2019.05.005

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Citations (38)

Cerebrale kavernøse malformasjoner

Tidsskrift for Den Norske Laegeforening (2005)

Jeanette Koht Geir J. Braathen Dirk Neubert Michael Bjørn Russell

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Diagnosing Hereditary Neuropathies in the Clinic with Next-Generation Sequencing Technology, the Norwegian Experience (S20.004)

Neurology (2016)

Geir J. Braathen Helle Høyer Øyvind L. Busk Øystein L. Holla Linda M. Strand

BACKGROUND Next-generation sequencing (NGS) or massively parallel sequencing detects the precise order of nucleotides within a DNA molecule. NGS is more effective than traditional sequencing methods, such as Sanger sequencing, when several genes are involved. Targeted NGS is starting to be used in diagnostics for disorders caused by several genes. We wanted to investigate the diagnostic yield of targeted NGS compared to traditional Sanger sequencing studying clinic patients suspicious of hereditary neuropathy. DESIGN/METHODS This retrospective study includes 103 patients investigated for hereditary neuropathy at Telemark Hospital, Norway from March 1. 2012 to May 1. 2014. After exclusion of PMP22 duplication /deletion, the remaining 96 samples were examined with targeted NGS for 52 hereditary neuropathy genes looking for sequence variants / mutations. RESULTS A genetic hereditary neuropathy cause was identified in 35 patients (34[percnt]), of which 28 patients (27[percnt]) had point mutations identified by NGS. CONCLUSIONS Twelve pathogenic sequence variants / mutations were identified in genes previously Sanger sequenced in our department while 16 sequence variants were identified in genes that previously would not have been investigated.

Norwegian

10.1212/wnl.86.16_supplement.s20.004

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Amyotrophic lateral sclerosis caused by the C9orf72 expansion in Norway – prevalence, ancestry, clinical characteristics and sociodemographic status

Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration (2024)

Cathrine Goberg Olsen Vetle Nilsen Malmberg Maria Fahlström Karl Bjørnar Alstadhaug Ingrid Kristine Bjørnå

The most common genetic cause of amyotrophic lateral sclerosis (ALS) is the

C9ORF72

10.1080/21678421.2024.2405118

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Citations (1)

Diagnostisk DNA-testing for Huntingtons sykdom

Tidsskrift for Den Norske Laegeforening (2000)

Johan Robert Helle Geir J. Braathen Tove Skodje Kåre Berg

Dna testing

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Diagnostisk eksomsekvensering – norske erfaringer

Tidsskrift for Den norske legeforening (2015)

Øystein L. Holla Øyvind L. Busk Kristian Tveten Hilde Tveitan Hilmarsen Linda M. Strand

BAKGRUNN BAKGRUNN Ny teknologi for DNA-sekvensering er i ferd med å revolusjonere medisinsk diagnostikk. Ved bruk av eksomsekvensering er det nå mulig å sekvensere alle menneskets gener parallelt. Metoden har vært benyttet mye til forskning de siste årene og har nå også inntatt diagnostikken. Målet med denne studien var å systematisere de første erfaringene med diagnostisk bruk av eksomsekvensering i Norge. MATERIALE OG METODE MATERIALE OG METODE Dette er en retrospektiv observasjonsstudie av alle eksomsekvenseringer svart ut fra Seksjon for medisinsk genetikk ved Sykehuset Telemark i perioden desember 2012 til oktober 2014. Dette omfatter 125 personer fra 46 ulike slekter. Majoriteten av de undersøkte slektene var under utredning for et syndrom (n = 35, 76 %) eller en nevrologisk sykdom (n = 9, 20 %). RESULTATER RESULTATER Det ble ved eksomsekvensering påvist patogene sekvensvarianter hos 15 av 46 probander. I tillegg fikk 12 probander påvist varianter av ukjent betydning. Av 100 pasienter som anga ønsker for tilbakeføring av eventuelle utilsiktede funn, svarte seks at de ikke ønsket slik informasjon. Det ble ikke gjort utilsiktede funn, men det ble heller ikke aktivt søkt etter slike sekvensvarianter. FORTOLKNING FORTOLKNING Eksomsekvensering kan gi flere pasienter med syndromer eller nevrologisk sykdom en årsaksdiagnose, og de kan få diagnosen tidligere. Pasientene i denne studien er imidlertid betydelig selektert, resultatene må derfor tolkes med forsiktighet.

Proband

Exome

10.4045/tidsskr.14.1442

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Citations (7)

Two novel missense mutations in the myelin protein zero gene causes Charcot-Marie-Tooth type 2 and Déjérine-Sottas syndrome

BMC Research Notes (2010)

Geir J. Braathen Jette C Sand Michael Bjørn Russell

The Charcot-Marie-Tooth (CMT) phenotype caused by mutation in the myelin protein zero (MPZ) gene varies considerably, from early onset and severe forms to late onset and milder forms. The mechanism is not well understood. The myelin protein zero (P0) mediates adhesion in the spiral wraps of the Schwann cell's myelin sheath. The crystalline structure of the extracellular domain of the myelin protein zero (P0ex) is known, while the transmembrane and intracellular structure is unknown.One novel missense mutation caused a milder late onset CMT type 2, while the second missense mutation caused a severe early onset phenotype compatible with Déjérine-Sottas syndrome.The phenotypic variation caused by different missense mutations in the MPZ gene is likely caused by different conformational changes of the MPZ protein which affects the functional tetramers. Severe changes of the MPZ protein cause dysfunctional tetramers and predominantly uncompacted myelin, i.e. the severe phenotypes congenital hypomyelinating neuropathy and Déjérine-Sottas syndrome, while milder changes cause the phenotypes CMT type 1 and 2.

10.1186/1756-0500-3-99

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Citations (7)

Den norske prosedyren ved presymptomatisk testing for Huntingtons sykdom

Tidsskrift for Den Norske Laegeforening (2000)

Johan Robert Helle Geir J. Braathen Jan Christian Pedersen Bodil Stokke Kåre Berg

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En kvinne i 50-årene med langvarig muskelsvakhet

Tidsskrift for Den norske legeforening (2022)

Cecilie F. Rustad Kristian Tveten Geir J. Braathen Else Merckoll Eva Kirkhus

BACKGROUND Arthrogryposis multiplex congenita (AMC) is a descriptive term that encompasses a group of congenital, aetiologically heterogeneous conditions characterised by multiple joint contractions. CASE PRESENTATION As a teenager, the index patient was told she had AMC, as did one of her parents. Subsequently, she wondered how her condition might evolve over time, since her affected parent had become wheelchair- dependent. Her history and clinical findings led to genetic testing which identified a causative variant in the COL6A2 gene, revealing an underlying diagnosis of Bethlem myopathy. INTERPRETATION Adults who have rare monogenic disorders may lack an aetiological diagnosis because of limited access to genetic laboratory testing in the past. Advances in genetic laboratory diagnostics during the last 10−15 years have made testing more widely available. As exemplified by this case, molecular genetic diagnosis may provide benefits such as information concerning prognosis and treatment options.

Etiology

Arthrogryposis multiplex congenita

Genetic diagnosis

10.4045/tidsskr.21.0038

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