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Article: Molecular analysis of the PDS gene in Pendred syndrome (sensorineural hearing loss and goitre)
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TitleMolecular analysis of the PDS gene in Pendred syndrome (sensorineural hearing loss and goitre)
 
AuthorsCoyle, B6
Reardon, W2
Herbrick, JA7
Tsui, LC7
Gausden, E6
Lee, J7
Coffey, R2
Grueters, A4
Grossman, A5
Phelps, PD1
Luxon, L
KendallTaylor, P3
Scherer, SW7
Trembath, RC6
 
Issue Date1998
 
PublisherOxford University Press. The Journal's web site is located at http://hmg.oxfordjournals.org/
 
CitationHuman Molecular Genetics, 1998, v. 7 n. 7, p. 1105-1112 [How to Cite?]
DOI: http://dx.doi.org/10.1093/hmg/7.7.1105
 
AbstractPendred syndrome is an autosomal recessive disorder characterized by the association between sensorineural hearing loss and thyroid swelling or goitre and is likely to be the most common form of syndromic deafness. Within the thyroid gland of affected individuals, iodide is incompletely organified with variable effects upon thyroid hormone biosynthesis, whilst the molecular basis of the hearing loss is unknown. The PDS gene has been identified by positional cloning of chromosome 7q31, within the Pendred syndrome critical linkage interval and encodes for a putative ion transporter called pendrin. We have investigated a cohort of 56 kindreds, all with features suggestive of a diagnosis of Pendred syndrome. Molecular analysis of the PDS gene identified 47 of the 60 (78%) mutant alleles in 31 families (includes three homozygous consanguineous kindreds and one extended family segregating three mutant alleles). Moreover, four recurrent mutations accounted for 35 (74%) of PDS disease chromosomes detected and haplotype analysis would favour common founders rather than mutational hotspots within the PDS gene. Whilst these findings demonstrate molecular heterogeneity for PDS mutations associated with Pendred syndrome, this study would support the use of molecular analysis of the PDS gene in the assessment of families with congenital hearing loss.
 
ISSN0964-6906
2012 Impact Factor: 7.692
2012 SCImago Journal Rankings: 4.103
 
DOIhttp://dx.doi.org/10.1093/hmg/7.7.1105
 
ISI Accession Number IDWOS:000074571900006
 
ReferencesReferences in Scopus
 
DC FieldValue
dc.contributor.authorCoyle, B
 
dc.contributor.authorReardon, W
 
dc.contributor.authorHerbrick, JA
 
dc.contributor.authorTsui, LC
 
dc.contributor.authorGausden, E
 
dc.contributor.authorLee, J
 
dc.contributor.authorCoffey, R
 
dc.contributor.authorGrueters, A
 
dc.contributor.authorGrossman, A
 
dc.contributor.authorPhelps, PD
 
dc.contributor.authorLuxon, L
 
dc.contributor.authorKendallTaylor, P
 
dc.contributor.authorScherer, SW
 
dc.contributor.authorTrembath, RC
 
dc.date.accessioned2007-09-12T03:51:44Z
 
dc.date.available2007-09-12T03:51:44Z
 
dc.date.issued1998
 
dc.description.abstractPendred syndrome is an autosomal recessive disorder characterized by the association between sensorineural hearing loss and thyroid swelling or goitre and is likely to be the most common form of syndromic deafness. Within the thyroid gland of affected individuals, iodide is incompletely organified with variable effects upon thyroid hormone biosynthesis, whilst the molecular basis of the hearing loss is unknown. The PDS gene has been identified by positional cloning of chromosome 7q31, within the Pendred syndrome critical linkage interval and encodes for a putative ion transporter called pendrin. We have investigated a cohort of 56 kindreds, all with features suggestive of a diagnosis of Pendred syndrome. Molecular analysis of the PDS gene identified 47 of the 60 (78%) mutant alleles in 31 families (includes three homozygous consanguineous kindreds and one extended family segregating three mutant alleles). Moreover, four recurrent mutations accounted for 35 (74%) of PDS disease chromosomes detected and haplotype analysis would favour common founders rather than mutational hotspots within the PDS gene. Whilst these findings demonstrate molecular heterogeneity for PDS mutations associated with Pendred syndrome, this study would support the use of molecular analysis of the PDS gene in the assessment of families with congenital hearing loss.
 
dc.description.naturelink_to_OA_fulltext
 
dc.identifier.citationHuman Molecular Genetics, 1998, v. 7 n. 7, p. 1105-1112 [How to Cite?]
DOI: http://dx.doi.org/10.1093/hmg/7.7.1105
 
dc.identifier.doihttp://dx.doi.org/10.1093/hmg/7.7.1105
 
dc.identifier.epage1112
 
dc.identifier.isiWOS:000074571900006
 
dc.identifier.issn0964-6906
2012 Impact Factor: 7.692
2012 SCImago Journal Rankings: 4.103
 
dc.identifier.issue7
 
dc.identifier.openurl
 
dc.identifier.pmid9618167
 
dc.identifier.scopuseid_2-s2.0-7144261720
 
dc.identifier.spage1105
 
dc.identifier.urihttp://hdl.handle.net/10722/44341
 
dc.identifier.volume7
 
dc.languageeng
 
dc.publisherOxford University Press. The Journal's web site is located at http://hmg.oxfordjournals.org/
 
dc.publisher.placeUnited Kingdom
 
dc.relation.ispartofHuman Molecular Genetics
 
dc.relation.referencesReferences in Scopus
 
dc.subject.meshGenes
 
dc.subject.meshGoiter - genetics
 
dc.subject.meshHearing loss, sensorineural - genetics
 
dc.subject.meshLoss of heterozygosity
 
dc.subject.meshThyroid gland - chemistry
 
dc.titleMolecular analysis of the PDS gene in Pendred syndrome (sensorineural hearing loss and goitre)
 
dc.typeArticle
 
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Author Affiliations
  1. Royal National Throat, Nose and Ear Hospital
  2. UCL Institute of Child Health
  3. Royal Victoria Infirmary
  4. Universitätsklinikum Schleswig-Holstein Campus Kiel
  5. St Bartholomew's Hospital
  6. University of Leicester
  7. Hospital for Sick Children University of Toronto