SLC26A4 mutation frequency and spectrum in 109 Danish Pendred syndrome/DFNB4 probands and a report of nine novel mutations

Clinical Genetics

Volumn 84, Issue 4, 2013, Pages 388-391

  Rendtorff, Nd ^a   Schrijver, I ^b   Lodahl, M ^a   Rodriguez Paris, J ^b   Johnsen, T ^c   Hansén, Ec ^d   Nickelsen, Laa ^a   Tumer Z ^e   Fagerheim, T ^f   Wetke, R ^g   Tranebjaerg L ^a,h  

^a UNIVERSITY OF COPENHAGEN   (Denmark)

^b STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c Gl Kongevej 25   (Denmark)

^d ÖREBRO UNIVERSITY HOSPITAL   (Sweden)

^e JOHN F KENNEDY INSTITUTE   (Denmark)

^f UNIVERSITY HOSPITAL OF NORTH NORWAY   (Norway)

^g AARHUS UNIVERSITY HOSPITAL   (Denmark)

^h BISPEBJERG HOSPITAL   (Denmark)

Author keywords

[No Author keywords available]

Indexed keywords

THYROTROPIN;

CHROMOSOME 7Q; COMPUTER ASSISTED TOMOGRAPHY; FOXI1 GENE; GENE; GENE MUTATION; GENE SEQUENCE; HEARING IMPAIRMENT; HUMAN; KJCN10 GENE; LETTER; MISSENSE MUTATION; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PENDRED SYNDROME; PRIORITY JOURNAL; SIX1 GENE; SLC26A4 GENE;

DENMARK; EXONS; GENOTYPE; GOITER, NODULAR; HEARING LOSS, SENSORINEURAL; HUMANS; INTRONS; MEMBRANE TRANSPORT PROTEINS; MUTATION RATE;

EID: 84883791377     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.12074     Document Type: Letter

References (6)

1. Alasti F, Van Camp G, Smith RJH. Pendred Syndrome/DFNB4. In: Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP, eds. GeneReviews™ [Internet]. Seattle, WA: University of Washington, 1998, from http://www.ncbi.nlm.nih.gov/books/NBK1467/. Accessed on August 30, 2012.
2. Pera A, Dossena S, Rodighiero S et al. Functional assessment of allelic variants in the SLC26A4 gene involved in Pendred syndrome and nonsyndromic EVA. Proc Natl Acad Sci U S A 2008: 105: 18608-18613.
3. Mosrati MA, Hammami B, Rebeh IB et al. A novel dominant mutation in SIX1, affecting a highly conserved residue, result in only auditory defects in humans. Eur J Med Genet 2011: 54: e484-e488.
4. Chen N, Tranebjaerg 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: 416-426.
5. Pourova R, Janousek P, Jurovcik M et al. Spectrum and frequency of SLC26A4 mutations among Czech patients with early hearing loss with and without Enlarged Vestibular Aqueduct (EVA). Ann Hum Genet 2010: 74: 299-307.
6. Siem G, Fagerheim T, Jonsrud C et al. Causes of hearing impairment in the Norwegian paediatric cochlear implant program. Int J Audiol 2010: 49: 596-605.