Petter Strømme
- Professor II
- +47-23015234
Publications 2024
Variants of NAV3, a neuronal morphogenesis protein, cause intellectual disability, developmental delay, and microcephaly
Commun Biol, 7 (1), 831
DOI 10.1038/s42003-024-06466-1, PubMed 38977784
Biallelic NDUFA4 Deletion Causes Mitochondrial Complex IV Deficiency in a Patient with Leigh Syndrome
Genes (Basel), 15 (4)
DOI 10.3390/genes15040500, PubMed 38674434
Biallelic ZBTB11 Variants: A Neurodevelopmental Condition with Progressive Complex Movement Disorders
Mov Disord (in press)
DOI 10.1002/mds.29883, PubMed 38899514
Publications 2023
A homozygous POLR1A variant causes leukodystrophy and affects protein homeostasis
Brain, 146 (8), 3513-3527
DOI 10.1093/brain/awad086, PubMed 36917474
Novel Loss of Function Variants in CENPF Including a Large Intragenic Deletion in Patients with Strømme Syndrome
Genes (Basel), 14 (11)
DOI 10.3390/genes14111985, PubMed 38002928
Publications 2022
DNA methylation episignature in Gabriele-de Vries syndrome
Genet Med, 24 (4), 905-914
DOI 10.1016/j.gim.2021.12.003, PubMed 35027293
Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals
Genet Med, 25 (1), 90-102
DOI 10.1016/j.gim.2022.09.010, PubMed 36318270
ZBTB11 dysfunction: spectrum of brain abnormalities, biochemical signature and cellular consequences
Brain, 145 (7), 2602-2616
DOI 10.1093/brain/awac034, PubMed 35104841
Publications 2021
Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C
J Clin Endocrinol Metab, 106 (2), e660-e674
DOI 10.1210/clinem/dgaa700, PubMed 33005949
Angry puppet - a neurological syndrome in crime fiction
Tidsskr Nor Laegeforen, 141 (5)
DOI 10.4045/tidsskr.20.0729, PubMed 33754662
Publications 2020
Loss of CBY1 results in a ciliopathy characterized by features of Joubert syndrome
Hum Mutat, 41 (12), 2179-2194
DOI 10.1002/humu.24127, PubMed 33131181
Sudden death in epilepsy and ectopic neurohypophysis in Joubert syndrome 23 diagnosed using SNVs/indels and structural variants pipelines on WGS data: a case report
BMC Med Genet, 21 (1), 96
DOI 10.1186/s12881-020-01024-y, PubMed 32381069
A girl with a neurodevelopmental syndrome, adducted thumbs and frequent infections caused by novel homozygous variant in DEAF1
Clin Dysmorphol, 29 (2), 107-110
DOI 10.1097/MCD.0000000000000314, PubMed 31929336
Publications 2019
Potassium citrate and metabolic acidosis in children with epilepsy on the ketogenic diet: a prospective controlled study
Dev Med Child Neurol, 62 (1), 57-61
DOI 10.1111/dmcn.14393, PubMed 31745987
CUGC for Stromme syndrome and CENPF-related disorders
Eur J Hum Genet, 28 (1), 132-136
DOI 10.1038/s41431-019-0498-y, PubMed 31488893
TBCK Encephaloneuropathy With Abnormal Lysosomal Storage: Use of a Structural Variant Bioinformatics Pipeline on Whole-Genome Sequencing Data Unravels a 20-Year-Old Clinical Mystery
Pediatr Neurol, 96, 74-75
DOI 10.1016/j.pediatrneurol.2019.02.001, PubMed 30898414
Publications 2018
Human TGF-β1 deficiency causes severe inflammatory bowel disease and encephalopathy
Nat Genet, 50 (3), 344-348
DOI 10.1038/s41588-018-0063-6, PubMed 29483653
Mutated Thyroid Hormone Transporter OATP1C1 Associates with Severe Brain Hypometabolism and Juvenile Neurodegeneration
Thyroid, 28 (11), 1406-1415
DOI 10.1089/thy.2018.0595, PubMed 30296914
Publications 2017
YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction
Am J Hum Genet, 100 (6), 907-925
DOI 10.1016/j.ajhg.2017.05.006, PubMed 28575647
GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects
J Med Genet, 54 (7), 460-470
DOI 10.1136/jmedgenet-2016-104509, PubMed 28377535
[Not Available]
Tidsskr Nor Laegeforen, 137 (14-15)
DOI 10.4045/tidsskr.17.0519, PubMed 28828824
Publications 2016
A novel mutation in FBXL4 in a Norwegian child with encephalomyopathic mitochondrial DNA depletion syndrome 13
Eur J Med Genet, 59 (6-7), 342-6
DOI 10.1016/j.ejmg.2016.05.005, PubMed 27182039
Strømme Syndrome Is a Ciliary Disorder Caused by Mutations in CENPF
Hum Mutat, 37 (4), 359-63
DOI 10.1002/humu.22960, PubMed 26820108
Strømme Syndrome Is a Ciliary Disorder Caused by Mutations in CENPF
Hum Mutat, 37 (7), 711
DOI 10.1002/humu.22997, PubMed 27300082
The investigation of inborn errors of metabolism as an underlying cause of idiopathic intellectual disability in adults in Norway
Eur J Neurol, 23 Suppl 1, 36-44
DOI 10.1111/ene.12884, PubMed 26563096
Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy
Neurology, 86 (23), 2171-8
DOI 10.1212/WNL.0000000000002740, PubMed 27164704
Clinical and molecular characteristics in three families with biallelic mutations in IGHMBP2
Neuromuscul Disord, 26 (9), 570-5
DOI 10.1016/j.nmd.2016.06.457, PubMed 27450922
Segregation of Incomplete Achromatopsia and Alopecia Due to PDE6H and LPAR6 Variants in a Consanguineous Family from Pakistan
Genes (Basel), 7 (8)
DOI 10.3390/genes7080041, PubMed 27472364
Novel PIGT Variant in Two Brothers: Expansion of the Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 3 Phenotype
Genes (Basel), 7 (12)
DOI 10.3390/genes7120108, PubMed 27916860
Publications 2015
A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform
Hum Mol Genet, 24 (20), 5845-54
DOI 10.1093/hmg/ddv305, PubMed 26220973
Kaufman oculocerebrofacial syndrome in sisters with novel compound heterozygous mutation in UBE3B
Am J Med Genet A, 167A (3), 657-63
DOI 10.1002/ajmg.a.36944, PubMed 25691420
Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome
Elife, 4, e06602
DOI 10.7554/eLife.06602, PubMed 26026149
Publications 2014
Intrauterine growth restriction - a population-based study of the association with academic performance and psychiatric health
Acta Paediatr, 103 (8), 886-91
DOI 10.1111/apa.12657, PubMed 24724871
Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations
Neurology, 83 (21), 1898-905
DOI 10.1212/WNL.0000000000001002, PubMed 25339210
Publications 2013
Haploinsufficiency of two histone modifier genes on 6p22.3, ATXN1 and JARID2, is associated with intellectual disability
Orphanet J Rare Dis, 8, 3
DOI 10.1186/1750-1172-8-3, PubMed 23294540
X-linked congenital ptosis and associated intellectual disability, short stature, microcephaly, cleft palate, digital and genital abnormalities define novel Xq25q26 duplication syndrome
Hum Genet, 133 (5), 625-38
DOI 10.1007/s00439-013-1403-3, PubMed 24326587
Publications 2012
Young girl with psychosis, cognitive failure and seizures
Tidsskr Nor Laegeforen, 132 (18), 2073-6
DOI 10.4045/tidsskr.12.0092, PubMed 23038201
Publications 2011
A translocation between Xq21.33 and 22q13.33 causes an intragenic SHANK3 deletion in a woman with Phelan-McDermid syndrome and hypergonadotropic hypogonadism
Am J Med Genet A, 155A (2), 403-8
DOI 10.1002/ajmg.a.33798, PubMed 21271662
A mild form of Mucopolysaccharidosis IIIB diagnosed with targeted next-generation sequencing of linked genomic regions
Eur J Hum Genet, 20 (1), 58-63
DOI 10.1038/ejhg.2011.126, PubMed 21712855
X-linked Angelman-like syndrome caused by Slc9a6 knockout in mice exhibits evidence of endosomal-lysosomal dysfunction
Brain, 134 (Pt 11), 3369-83
DOI 10.1093/brain/awr250, PubMed 21964919
Publications 2010
A de novo 15q13.2q13.3 deletion in a boy with an Angelman syndrome like phenotype
Eur J Med Genet, 53 (4), 221-4
DOI 10.1016/j.ejmg.2010.03.010, PubMed 20382277
[Children with neurodegenerative disease]
Tidsskr Nor Laegeforen, 130 (15), 1489-92
DOI 10.4045/tidsskr.10.0020, PubMed 20706313
Natural history of Christianson syndrome
Am J Med Genet A, 152A (11), 2775-83
DOI 10.1002/ajmg.a.33093, PubMed 20949524
Publications 2009
SCA27 caused by a chromosome translocation: further delineation of the phenotype
Neurogenetics, 10 (4), 371-4
DOI 10.1007/s10048-009-0197-x, PubMed 19471976
Dual degradation mechanisms ensure disposal of NHE6 mutant protein associated with neurological disease
Exp Cell Res, 315 (17), 3014-27
DOI 10.1016/j.yexcr.2009.07.012, PubMed 19619532
Parental consanguinity is associated with a seven-fold increased risk of progressive encephalopathy: a cohort study from Oslo, Norway
Eur J Paediatr Neurol, 14 (2), 138-45
DOI 10.1016/j.ejpn.2009.03.007, PubMed 19446480
Expanding CEP290 mutational spectrum in ciliopathies
Am J Med Genet A, 149A (10), 2173-80
DOI 10.1002/ajmg.a.33025, PubMed 19764032
Publications 2008
Niemann-Pick disease type C2 presenting as fatal pulmonary alveolar lipoproteinosis: morphological findings in lung and nervous tissue
Med Sci Monit, 14 (8), CS71-5
PubMed 18668002
SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome
Am J Hum Genet, 82 (4), 1003-10
DOI 10.1016/j.ajhg.2008.01.013, PubMed 18342287
[Mental retardation]
Tidsskr Nor Laegeforen, 128 (7), 841; author reply 841
PubMed 18389036
[Artistic creativeness and Huntington disease]
Tidsskr Nor Laegeforen, 128 (19), 2226
PubMed 18846157
Publications 2007
CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders
Am J Hum Genet, 81 (1), 104-13
DOI 10.1086/519026, PubMed 17564967
[Tuberous sclerosis]
Tidsskr Nor Laegeforen, 127 (7), 853
PubMed 17435801
2-methylbutyryl-CoA dehydrogenase deficiency associated with autism and mental retardation: a case report
J Med Case Rep, 1, 98
DOI 10.1186/1752-1947-1-98, PubMed 17883863
Incidence rates of progressive childhood encephalopathy in Oslo, Norway: a population based study
BMC Pediatr, 7, 25
DOI 10.1186/1471-2431-7-25, PubMed 17597517
Mortality in childhood progressive encephalopathy from 1985 to 2004 in Oslo, Norway: a population-based study
Acta Paediatr, 97 (1), 35-40
DOI 10.1111/j.1651-2227.2007.00579.x, PubMed 18076719
Severe hypohidrotic ectodermal dysplasia in a girl caused by a de novo 9;X insertion that includes XIST and disrupts the EDA gene
Am J Med Genet A, 143A (13), 1510-3
DOI 10.1002/ajmg.a.31797, PubMed 17568423
Publications 2006
Microphthalmia and brain atrophy: a novel neurodegenerative disease
Ann Neurol, 59 (4), 719-23
DOI 10.1002/ana.20827, PubMed 16566018
A novel splice site mutation in the Cockayne syndrome group A gene in two siblings with Cockayne syndrome
Neuroscience, 145 (4), 1397-406
DOI 10.1016/j.neuroscience.2006.09.025, PubMed 17084038
Cathepsin D deficiency underlies congenital human neuronal ceroid-lipofuscinosis
Brain, 129 (Pt 6), 1438-45
DOI 10.1093/brain/awl107, PubMed 16670177
Foreldrepoesi: om psykisk utviklingshemming i litteraturen
In Hjernen og kulturen, Koloritt forlag, Oslo, s. 128-137
BIBSYS 070134081
Publications 2005
ARX and other single genes in X-linked mental retardation: revisiting a population-based study
J. Pediatr. Neurol., 3 (2), 121-122
Follow-up of a girl with cleft lip and palate and multiple malformations: trisomy 20 mosaicism
Scand J Plast Reconstr Surg Hand Surg, 39 (3), 178-9
DOI 10.1080/02844310510006141, PubMed 16019751
Publications 2004
Aicardi syndrome in a girl with mild developmental delay, absence of epilepsy and normal EEG
Clin Dysmorphol, 13 (4), 257-260
DOI 10.1097/00019605-200410000-00012, PubMed 15365465
Publications 2003
Ten years follow up of a boy with a complex chromosomal rearrangement: going from a > 5 to 15-breakpoint CCR
Am J Med Genet A, 118A (3), 235-40
DOI 10.1002/ajmg.a.10106, PubMed 12673653
Brain cysts associated with mutation in the Aristaless related homeobox gene, ARX
J Neurol Neurosurg Psychiatry, 74 (4), 536-8
DOI 10.1136/jnnp.74.4.536, PubMed 12640086
Publications 2002
X-linked myoclonic epilepsy with spasticity and intellectual disability: mutation in the homeobox gene ARX
Neurology, 59 (3), 348-56
DOI 10.1212/wnl.59.3.348, PubMed 12177367
Prevalence estimation of Williams syndrome
J Child Neurol, 17 (4), 269-71
DOI 10.1177/088307380201700406, PubMed 12088082
Infantile spasms, dystonia, and other X-linked phenotypes caused by mutations in Aristaless related homeobox gene, ARX
Brain Dev, 24 (5), 266-8
DOI 10.1016/s0387-7604(02)00079-7, PubMed 12142061
Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy
Nat Genet, 30 (4), 441-5
DOI 10.1038/ng862, PubMed 11889467
Publications 2001
Levels of cognitive and linguistic development in Angelman syndrome: a study of 20 children
Logoped Phoniatr Vocol, 26 (1), 2-9
PubMed 11432411
Publications 2000
Aetiology in severe and mild mental retardation: a population-based study of Norwegian children
Dev Med Child Neurol, 42 (2), 76-86
DOI 10.1017/s0012162200000165, PubMed 10698323
Epidemiological, genetic and neurological aspects of mental retardation: a Norwegian population-based study of children born between 1980 and 1985
Section for Child Neurology, Department of Paediatrics, The National Hospital, University of Oslo, [Oslo], 1 b. (flere pag.)
BIBSYS 00017467x, ISBN 82-7722-125-8
Prevalence of psychiatric diagnoses in children with mental retardation: data from a population-based study
Dev Med Child Neurol, 42 (4), 266-70
DOI 10.1017/s0012162200000451, PubMed 10795566
Correlations between socioeconomic status, IQ and aetiology in mental retardation: a population-based study of Norwegian children
Soc Psychiatry Psychiatr Epidemiol, 35 (1), 12-8
DOI 10.1007/s001270050003, PubMed 10741531
Cardiac surgery in a girl with trisomy 13
Cardiol Young, 10 (6), 638-40
DOI 10.1017/s1047951100008945, PubMed 11117399
Publications 1999
X linked mental retardation and infantile spasms in a family: new clinical data and linkage to Xp11.4-Xp22.11
J Med Genet, 36 (5), 374-8
PubMed 10353782
Publications 1998
Congenital ptosis and blepharophimosis in a mentally retarded girl: a new case of Ohdo syndrome?
Clin Dysmorphol, 7 (1), 61-3
PubMed 9546834
[Syndromes--correct diagnosis means better follow-up]
Tidsskr Nor Laegeforen, 118 (10), 1539
PubMed 9615578
Mental retardation in Norway: prevalence and sub-classification in a cohort of 30037 children born between 1980 and 1985
Acta Paediatr, 87 (3), 291-6
DOI 10.1080/08035259850157345, PubMed 9560036
Molecular characterization of two deletion events involving Alu-sequences, one novel base substitution and two tentative hotspot mutations in the hypoxanthine phosphoribosyltransferase (HPRT) gene in five patients with Lesch-Nyhan syndrome
Hum Genet, 103 (3), 311-8
DOI 10.1007/s004390050822, PubMed 9799086
Publications 1997
Fine mapping of the gene for carbohydrate-deficient glycoprotein syndrome, type I (CDG1): linkage disequilibrium and founder effect in Scandinavian families
Genomics, 39 (3), 247-53
DOI 10.1006/geno.1996.4488, PubMed 9119361
Macrocephaly, epilepsy, autism, dysmorphic features, and mental retardation in two sisters: a new autosomal recessive syndrome?
J Med Genet, 34 (10), 849-51
DOI 10.1136/jmg.34.10.849, PubMed 9350820
Developmental aspects in apple peel intestinal atresia-ocular anomalies-microcephaly syndrome
Clin Genet, 52 (2), 133
DOI 10.1111/j.1399-0004.1997.tb02532.x, PubMed 9298751
Encephaloneuropathy with lysosomal zebra bodies and GM2 ganglioside storage
Pediatr Neurol, 16 (2), 141-4
DOI 10.1016/s0887-8994(96)00298-6, PubMed 9090689
Publications 1996
Learning disabilities and language pathology in patients with galactosemia
Logoped Phoniatr Vocol, 21 (3-4), 157-62
DOI 10.3109/14015439609098884, PubMed 21275587
Unilateral cleft lip in a boy with Angelman syndrome
J Craniofac Genet Dev Biol, 16 (2), 122-5
PubMed 8773903
Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES)
Acta Ophthalmol Scand, 74 (1), 45-7
DOI 10.1111/j.1600-0420.1996.tb00680.x, PubMed 8689480
Publications 1995
[Neuronal migration disorders. Radiological and clinical aspects]
Tidsskr Nor Laegeforen, 115 (16), 1952-6
PubMed 7638849
Aplasia cutis congenita associated with limb, eye, and brain anomalies in sibs: a variant of the Adams-Oliver syndrome?
Am J Med Genet, 59 (1), 92-5
DOI 10.1002/ajmg.1320590118, PubMed 8849019
Atypical methylmalonic aciduria with progressive encephalopathy, microcephaly and cataract in two siblings--a new recessive syndrome?
Clin Genet, 48 (1), 1-5
DOI 10.1111/j.1399-0004.1995.tb04045.x, PubMed 7586637
Publications 1994
Linkage of a locus for carbohydrate-deficient glycoprotein syndrome type I (CDG1) to chromosome 16p, and linkage disequilibrium to microsatellite marker D16S406
Hum Mol Genet, 3 (11), 2037-42
PubMed 7874123
[Adrenoleukodystrophy--clinical, biochemical and therapeutic aspects]
Tidsskr Nor Laegeforen, 114 (28), 3321-3
PubMed 7809891
Publications 1993
Further evidence for the location of the blepharophimosis syndrome (BPES) at 3q22.3-q23
Clin Genet, 44 (3), 149-51
DOI 10.1111/j.1399-0004.1993.tb03867.x, PubMed 8275574
Renal cysts in the carbohydrate-deficient glycoprotein syndrome
Pediatr Nephrol, 7 (3), 253-5
DOI 10.1007/BF00853211, PubMed 8518092
Apple peel intestinal atresia in siblings with ocular anomalies and microcephaly
Clin Genet, 44 (4), 208-10
DOI 10.1111/j.1399-0004.1993.tb03881.x, PubMed 8261651
Cleft lip and palate, scoliosis, skeletal and cardiac malformations and other dysmorphic features in a child. Case report
Scand J Plast Reconstr Surg Hand Surg, 27 (1), 71-4
DOI 10.3109/02844319309080295, PubMed 8493488
Publications 1992
[Mental retardation in children. Prevalence and etiology]
Tidsskr Nor Laegeforen, 112 (6), 749-51
PubMed 1561594
Publications 1991
Bilateral arachnoid cysts of the temporal fossa in four children with glutaric aciduria type I
AJNR Am J Neuroradiol, 12 (3), 407-9
PubMed 2058483
CLINICAL PRESENTATION AND NATURAL COURSE OF THE CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME
ACTA PAEDIATR SCAND (375), 6-13
Confocal scanning laser microscopy of mitochondria: a possible tool in the diagnosis of mitochondrial disorders
J Inherit Metab Dis, 14 (1), 45-8
DOI 10.1007/BF01804387, PubMed 1861458
POSTMORTEM FINDINGS IN 2 PATIENTS WITH THE CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME
ACTA PAEDIATR SCAND (375), 55-62
The diagnosis of syndromes by use of a dysmorphology database
Acta Paediatr Scand, 80 (1), 106-9
DOI 10.1111/j.1651-2227.1991.tb11741.x, PubMed 2028781
[The carbohydrate deficient glycoprotein syndrome]
Tidsskr Nor Laegeforen, 111 (10), 1236-7
PubMed 2042132
Publications 1990
[Identification of syndromes using a combined computer and video program]
Tidsskr Nor Laegeforen, 110 (9), 1085-7
PubMed 2184540