Article: Molecular analysis of the PDS gene in Pendred syndrome (sensorineural hearing loss and goitre)

File Download Links for fulltext
(May Require Subscription)
Supplementary

  • Basic View
  • Metadata View
  • XML View
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
2011 Impact Factor: 7.636
2011 SCImago Journal Rankings: 1.308
DOIhttp://dx.doi.org/10.1093/hmg/7.7.1105
ReferencesReferences in Scopus
DC Field
Value
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
2011 Impact Factor: 7.636
2011 SCImago Journal Rankings: 1.308
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
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, Toronto