Affiliation: University of Troms
- Jervell and Lange-Nielsen syndrome: a Norwegian perspectiveL Tranebjaerg
Department of Medical Genetics, University Hospital, Tromsø, Norway
Am J Med Genet 89:137-46. 1999..Am. J. Med. Genet. (Semin. Med. Genet.) 89:137-146, 1999...
- A de novo missense mutation in a critical domain of the X-linked DDP gene causes the typical deafness-dystonia-optic atrophy syndromeL Tranebjaerg
Department of Medical Genetics, University Hospital of Tromsø, Norway
Eur J Hum Genet 8:464-7. 2000....
- Neuronal cell death in the visual cortex is a prominent feature of the X-linked recessive mitochondrial deafness-dystonia syndrome caused by mutations in the TIMM8a geneL Tranebjaerg
Department of Medical Genetics, University Hospital of Tromsø, Tromsø, Norway
Ophthalmic Genet 22:207-23. 2001....
- Genome-wide homozygosity mapping localizes a gene for autosomal recessive non-progressive infantile ataxia to 20q11-q13Lisbeth Tranebjaerg
Department of Audiology, Bispebjerg Hospital, Bispebjerg Bakke 23, DK 2400, Copenhagen NV, Denmark
Hum Genet 113:293-5. 2003..Here, we report homozygosity mapping of a novel locus to a 19.5-cM region on chromosome 20q11-q13 in a large inbred Norwegian family with infantile non-progressive ataxia...
- Spectrum of USH2A mutations in Scandinavian patients with Usher syndrome type IIBo Dreyer
Department of Medical Genetics, Institute of Clinical Medicine, University of Tromsø, NO 9037 Tromsø, Norway
Hum Mutat 29:451. 2008..2%) families the USH phenotype could be explained by mutations in the USH3A gene. The results presented here provide a comprehensive picture of the genetic aetiology of Usher syndrome type IIA in Scandinavia as it is known to date...
- A novel missense mutation in ACTG1 causes dominant deafness in a Norwegian DFNA20/26 family, but ACTG1 mutations are not frequent among families with hereditary hearing impairmentNanna D Rendtorff
Department of Medical Biochemistry and Genetics, Wilhelm Johannsen Centre for Functional Genomics, University of Copenhagen, Copenhagen, Denmark
Eur J Hum Genet 14:1097-105. 2006..Finally, the present results do not indicate that mutations in ACTG1 are a frequent cause of autosomal-dominant postlingual sensorineural hearing impairment in Norway nor Denmark...
- Missense mutations in the BCS1L gene as a cause of the Björnstad syndromeJ Travis Hinson
Harvard Medical School, Boston, MA 02115, USA
N Engl J Med 356:809-19. 2007..The Björnstad syndrome, an autosomal recessive disorder associated with sensorineural hearing loss and pili torti, is caused by mutation of a previously unidentified gene on chromosome 2q34-36...
- Cochlear implantation in deafness-dystonia-optic neuronopathy (DDON) syndromeJames T Brookes
Department of Surgery, Division of Pediatric Surgery, University of Calgary, Calgary, Alberta, Canada
Int J Pediatr Otorhinolaryngol 72:121-6. 2008..Further investigation is required to determine the efficacy of cochlear implantation in this patient population. DDON syndrome should be considered in patients with X-linked agammaglobulinemia and hearing loss...
- Identification of a novel EYA1 splice-site mutation in a Danish branchio-oto-renal syndrome familyAnn Marie Henriksen
Willhelm Johansen Centre for Functional Genome Research, Department of Medical Biochemistry and Genetics, University of Copenhagen, Blegdamsvej 3, DK 2200 Copenhagen, Denmark
Genet Test 8:404-6. 2004..We conclude that this mutation is causing BOR in the family, most likely as a result of haploinsufficiency or an abnormal protein product caused by aberrant splicing of EYA1 mRNA...
- The calcium-binding aspartate/glutamate carriers, citrin and aralar1, are new substrates for the DDP1/TIMM8a-TIMM13 complexKarin Roesch
Department of Chemistry and Biochemistry, UCLA, Los Angeles, CA 90095 15691, USA
Hum Mol Genet 13:2101-11. 2004..Thus, insufficient NADH shuttling, linked with changes in Ca2+ concentration, in sensitive cells of the central nervous system might contribute to the pathologic process associated with MTS...
- Novel SIL1 mutations and exclusion of functional candidate genes in Marinesco-Sjögren syndromeAnna Kaisa Anttonen
Folkhälsan Institute of Genetics and Neuroscience Center, Department of Medical Genetics, University of Helsinki, Helsinki, Finland
Eur J Hum Genet 16:961-9. 2008..These data imply that aggregation of mutant proteins may contribute to MSS pathogenesis. The genetic background of a subgroup of patients with MSS remains uncovered...
- Human deafness dystonia syndrome is caused by a defect in assembly of the DDP1/TIMM8a-TIMM13 complexKarin Roesch
Department of Chemistry and Biochemistry and the Molecular Biology Institute, University of California, Los Angeles, CA 90095 1569, USA
Hum Mol Genet 11:477-86. 2002..In a similar manner to Tim8p, TIMM8a seemingly mediates the import of hTim23. Deafness/dystonia syndrome thus may be caused by decreased levels of Tim23 in the mitochondrial inner membrane in affected tissues...
- Branchio-oto-renal syndrome: detection of EYA1 and SIX1 mutations in five out of six Danish families by combining linkage, MLPA and sequencing analysesKirsten Marie Sanggaard
Wilhelm Johannsen Centre for Functional Genome Research, Section of Genetics, Institute of Cellular and Molecular Medicine, The Panum Institute, University of Copenhagen, Copenhagen, Denmark
Eur J Hum Genet 15:1121-31. 2007..Unidentified mutations impairing mRNA expression or further genetic heterogeneity may explain the lack of mutation finding in one family despite LOD score indications of EYA1 involvement...
- Non-disjunction of chromosome 13Merete Bugge
Wilhelm Johannsen Centre for Functional Genome Research, Department of Cellular and Molecular Medicine, University of Copenhagen, Denmark
Hum Mol Genet 16:2004-10. 2007..This study supports the evidence for subtle chromosome-specific influences on the mechanisms that determine non-disjunction of human chromosomes, consistent with the diversity of findings for other trisomies...
- The coding region of TP53INP2, a gene expressed in the developing nervous system, is not altered in a family with autosomal recessive non-progressive infantile ataxia on chromosome 20q11-q13Jennifer S Bennetts
Institute for Molecular Bioscience, The University of Queensland, Australia
Dev Dyn 236:843-52. 2007..Our failure to detect causative mutations suggests that alterations in the coding region of TP53INP2 are not responsible for ataxia in this family, although we cannot rule out changes in non-coding elements of this gene...
- Blepharophimosis, corneal vascularization, deafness, and acroosteolysis: a "new" syndrome?Mette Warburg
Department of Pediatric Ophthalmology and Handicap, Copenhagen University Hospital, Glostrup, Denmark
Am J Med Genet A 140:2709-13. 2006....
- Effects of human deafness gamma-actin mutations (DFNA20/26) on actin functionKeith E Bryan
Department of Biochemistry, University of Iowa Carver College of Medicine, Iowa City, Iowa 52242, USA
J Biol Chem 281:20129-39. 2006..Our results suggest that a major factor in the deafness caused by these mutations is an altered ability of the actin filaments to be properly regulated by actin-binding proteins rather than an inability to polymerize...
- The gene disrupted in Marinesco-Sjögren syndrome encodes SIL1, an HSPA5 cochaperoneAnna Kaisa Anttonen
Folkhälsan Institute of Genetics and Neuroscience Center, University of Helsinki, PO Box 63, FI 00014 Helsinki, Finland
Nat Genet 37:1309-11. 2005..These data, together with the similar spatial and temporal patterns of tissue expression of Sil1 and Hspa5, suggest that disturbed SIL1-HSPA5 interaction and protein folding is the primary pathology in Marinesco-Sjögren syndrome...
- Mutation analysis of the WFS1 gene in seven Danish Wolfram syndrome families; four new mutations identifiedLars Hansen
The Wilhelm Johannsen Centre for Functional Genome Research, Institute of Medical Biochemistry and Genetics, Panum Institute, University of Copenhagen, Copenhagen N, Denmark
Eur J Hum Genet 13:1275-84. 2005..In contrast, diabetes insipidus was present in two subjects only. Various degrees and types of hearing impairment were diagnosed in six individuals and cataract was observed in five subjects...
- Audiological and vestibular features in affected subjects with USH3: a genotype/phenotype correlationMehdi Sadeghi
The Sahlgrenska Academy, Institute of Selected Clinical Sciences, Dept of Audiology, Box 452, SE 405 30 Gothenburg, Sweden
Int J Audiol 44:307-16. 2005..Depending on the severity of HL, subjects with USH3 might be misdiagnosed as either Usher type IB or IIA. The results from this study can be used as discriminatory features in differential diagnosis of this syndrome...
- Deoxyribonucleic acid contamination in archival human temporal bones: a potentially significant problemMichael J McKenna
Department of Otology and Laryngology, Harvard Medical School, Boston, Massachusetts, USA
Otol Neurotol 23:789-92. 2002..Contamination of archival human temporal bones with extraneous deoxyribonucleic acid may represent a potentially significant problem in the analysis of nucleic acids isolated from archival specimens...
- Mutations in two genes encoding different subunits of a receptor signaling complex result in an identical disease phenotypeJuha Paloneva
Department of Molecular Medicine, National Public Health Institute, Helsinki, Finland
Am J Hum Genet 71:656-62. 2002....
- A novel nonsense mutation in MYO6 is associated with progressive nonsyndromic hearing loss in a Danish DFNA22 familyKirsten M Sanggaard
Wilhelm Johannsen Centre for Functional Genome Research, Institute of Cellular and Molecular Medicine, The Panum Institute, University of Copenhagen, Copenhagen, Denmark
Am J Med Genet A 146:1017-25. 2008..No other system was involved indicating nonsyndromic loss. In conclusion, a novel nonsense MYO6 mutation causes post-lingual, slowly progressive autosomal dominant nonsyndromic moderate to severe hearing loss in a Danish family...