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Center director:
Prof. Niels Tommerup
tommerup@imbg.ku.dk







Centre contact information

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Nanna Dahl Rendtorff

Nanna Dahl Rendtorff

Post.doc / Post.doc

Bioinformatics and large-scale genome research in cochlear function

The general aim of the project is to provide new knowledge of cochlear function through identification of new genes (proteins) in cochlear structure and maintenance, as well as new genetic causes of deafness. To achieve these goals, we will focus on 2 projects: 1. Large-scale identification and characterization of gene-expression in the cochlea, and 2. Development of new methods for identification of non-syndromic deafness genes.

Emailnannad@sund.ku.dk
Office24.4.19
Phone27821/20

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Publications related to WJC

17.   Bergman JE, Janssen N, van der Sloot AM, de Walle HE, Schoots J, Rendtorff ND, Tranebjaerg L, Hoefsloot LH, van Ravenswaaij-Arts CM, Hofstra RM. A novel classification system to predict the pathogenic effects of CHD7 missense variants in CHARGE syndrome. Hum Mutat. 2012 Aug;33(8):1251-60.
 
16.   Ha AD, Parratt KL, Rendtorff ND, Lodahl M, Ng K, Rowe DB, Sue CM, Hayes MW, Tranebjaerg L, Fung VS. The phenotypic spectrum of dystonia in Mohr-Tranebjaerg syndrome. Mov Disord. 2012 Jul;27(8):1034-40.
 
15.   Homøe P, Koch A, Rendtorff ND, Lodahl M, Andersen T, Andersen S, Eiberg H, Nielsen IM, Tranebjærg L. GJB2 (Connexin-26) mutations are not frequent among hearing impaired patients in East Greenland. Int J Audiol. 2012;51:433-6.
 
14.   Yuca SA, Rendtorff ND, Boulahbel H, Lodahl M, Tranebjærg L, Cesur Y, Dogan M, Yilmaz C, Akgun C, Acikgoz M. Rapidly progressive renal disease as part of Wolfram syndrome in a large inbred Turkish family due to a novel WFS1 mutation (p.Leu511Pro). Eur J Med Genet. 2012;55:37-42.
 
13.   Schönewolf-Greulich B, Ronan A, Ravn K, Baekgaard P, Lodahl M, Nielsen K, Rendtorff ND, Tranebjaerg L, Brøndum-Nielsen K, Tümer Z. Two new cases with microdeletion of 17q23.2 suggest presence of a candidate gene for sensorineural hearing loss within this region. Am J Med Genet A. 2011;155:2964-9.
 
12.   Chen N, Tranebjærg L, Rendtorff ND, Schrijver I. Mutation Analysis of SLC26A4 for pendred syndrome and nonsyndromic hearing loss by high-resolution melting. J Mol Diagn. 2011;13:416-26.
 
11.   Rendtorff ND, Lodahl M, Boulahbel H, Johansen IR, Pandya A, Welch KO, Norris VW, Arnos KS, Bitner-Glindzicz M, Emery SB, Mets MB, Fagerheim T, Eriksson K, Hansen L, Bruhn H, Möller C, Lindholm S, Ensgaard S, Lesperance MM, Tranebjaerg L. Identification of p.A684V missense mutation in the WFS1 gene as a frequent cause of autosomal dominant optic atrophy and hearing impairment. Am J Med Genet A. 2011;155A:1298-313.
 
10.   Koppelhus U, Tranebjaerg L, Esberg G, Ramsing M, Lodahl M, Rendtorff ND, Olesen HV, Sommerlund M. A novel mutation in the connexin 26 gene (GJB2) in a child with clinical and histological features of keratitis-ichthyosis-deafness (KID) syndrome. Clin Exp Dermatol. 2011;36:142-8.
 
9.   Kokotas H, Grigoriadou M, Yang L, Lodahl M, Rendtorff ND, Gyftodimou Y, Korres GS, Ferekidou E, Kandiloros D, Korres S, Tranebjærg L, Guan MX, Petersen MB. Homoplasmy of the G7444A mtDNA and heterozygosity of the GJB2 c.35delG mutations in a family with hearing loss. Int J Pediatr Otorhinolaryngol. 2011;75:89-94.
 
8.   Morisada N, Rendtorff ND, Nozu K, Morishita T, Miyakawa T, Matsumoto T, Hisano S, Iijima K, Tranebjærg L, Shirahata A, Matsuo M, Kusuhara K. Branchio-oto-renal syndrome caused by partial EYA1 deletion due to LINE-1 insertion. Pediatr Nephrol. 2010;25:1343-8.
 
7.   Topsakal V, Hilgert N, van Dinther J, Tranebjærg L, Rendtorff ND, Zarowski A, Offeciers E, Van Camp G, van de Heyning P. Genotype-Phenotype Correlation for DFNA22: Characterization of Non-Syndromic, Autosomal Dominant, Progressive Sensorineural Hearing Loss due to MYO6 Mutations. Audiol Neurootol. 2009;15:211-20.
 
6.   Sanggaard KM, Kjaer KW, Eiberg H, Nürnberg G, Nürnberg P, Hoffman K, Jensen H, Sørum C, Rendtorff ND, Tranebjærg L. A novel nonsense mutation in MYO6 is associated with progressive nonsyndromic hearing loss in a Danish DFNA22 family. Am J Med Genet A. 2008;146:1017-25.
 
5.   Sanggaard KM, Rendtorff ND, Kjaer KW, Eiberg H, Johnsen T, Gimsing S, Dyrmose J, Nielsen KO, Lage K, Tranebjaerg L. Branchio-oto-renal syndrome: detection of EYA1 and SIX1 mutations in five out of six Danish families by combining linkage, MLPA and sequencing analyses. Eur J Hum Genet. 2007;15:1121-31.
 
4.   Bennetts JS, Rendtorff ND, Simpson F, Tranebjaerg L, Wicking C. 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-q13. Dev Dyn. 2007;236:843-52.
 
3.   Rendtorff ND, Zhu M, Fagerheim T, Antal TL, Jones M, Teslovich TM, Gillanders EM, Barmada M, Teig E, Trent JM, Friderici KH, Stephan DA, Tranebjaerg L. 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 impairment. Eur J Hum Genet. 2006;14:1097-105.
 
2.   Bryan KE, Wen KK, Zhu M, Rendtorff ND, Feldkamp M, Tranebjaerg L, Friderici KH, Rubenstein PA. Effects of human deafness gamma -actin mutations (DFNA20/26) on actin function. J Biol Chem. 2006;281:20129-39.
 
1.   Grønskov K, Larsen LA, Rendtorff ND, Parving A, Nørgaard-Pedersen B, Brøndum-Nielsen K. GJB2 and GJB6 mutations in 165 Danish patients showing non-syndromic hearing impairment. Genet Test. 2004;8:181-4.
 

Book chapters related to WJC

1.   Tranebjaerg L, Barrett T, Rendtorff ND. WFS1-Related Disorders. In: Pagon RA, Bird TC, Dolan CR, Stephens K (eds.). GeneReviews [Internet]. Seattle (WA) 2009, University of Washington, Seattle.
 

Presentations related to WJC

The Movement Disorder Society: 12th Int. Congress of Parkinsons Disease and Movement Disorders
Chicago, June 22, 2008
Posters
3.   Parratt KL, Ng K, Rowe DB, Morris JGL, Hayes MW, Sue CM, Tranebjaerg L, Rendtorff ND, Fung VSC. The spectrum of dystonia in Mohr-Tranebjaerg syndrome in three Australian kindreds.
 
EUROMIT 2008
Stockholm, June 11, 2008
Posters
2.   Rendtorff ND, LOdahl M, Hansen L, Chapka E, Bitner-Glindzicz M, Welch KO, Möller C, Lindholm S, Eriksson K, Ensgård S, Tranebjærg L. WFS1 mutations and phenotypic heterogeneity in 12 families with WFS1 related disease.
 
Genes, Hearing and Deafness. From molecular biology to clinical practice
Caserta, Italy, March 17, 2005
Posters
1.   Rendtorff ND, Zhu M, Fagerheim T, Antal T, Jones M-P, Teslovish TM, Gillanders EM, Barmada MM, Teig E, Trent JM, Friderici K, Stephan DA, Tranebjærg L. A novel missense mutation in the γ-actin 1 gene (ACTG1) is the cause of dominant, late-onset progressive, hearing loss in a large Norwegian family linked to DFNA20/26.
 

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