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

TitleMolecular analysis of the PDS gene in Pendred syndrome (sensorineural hearing loss and goitre)
Authors
Issue Date1998
PublisherOxford University Press. The Journal's web site is located at http://hmg.oxfordjournals.org/
Citation
Human Molecular Genetics, 1998, v. 7 n. 7, p. 1105-1112 How to Cite?
Abstract
Pendred 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.
Persistent Identifierhttp://hdl.handle.net/10722/44341
ISSN
2013 Impact Factor: 6.677
ISI Accession Number ID
References

 

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
DC FieldValueLanguage
dc.contributor.authorCoyle, Ben_HK
dc.contributor.authorReardon, Wen_HK
dc.contributor.authorHerbrick, JAen_HK
dc.contributor.authorTsui, LCen_HK
dc.contributor.authorGausden, Een_HK
dc.contributor.authorLee, Jen_HK
dc.contributor.authorCoffey, Ren_HK
dc.contributor.authorGrueters, Aen_HK
dc.contributor.authorGrossman, Aen_HK
dc.contributor.authorPhelps, PDen_HK
dc.contributor.authorLuxon, Len_HK
dc.contributor.authorKendallTaylor, Pen_HK
dc.contributor.authorScherer, SWen_HK
dc.contributor.authorTrembath, RCen_HK
dc.date.accessioned2007-09-12T03:51:44Z-
dc.date.available2007-09-12T03:51:44Z-
dc.date.issued1998en_HK
dc.identifier.citationHuman Molecular Genetics, 1998, v. 7 n. 7, p. 1105-1112en_HK
dc.identifier.issn0964-6906en_HK
dc.identifier.urihttp://hdl.handle.net/10722/44341-
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.en_HK
dc.languageengen_HK
dc.publisherOxford University Press. The Journal's web site is located at http://hmg.oxfordjournals.org/en_HK
dc.relation.ispartofHuman Molecular Geneticsen_HK
dc.subject.meshGenesen_HK
dc.subject.meshGoiter - geneticsen_HK
dc.subject.meshHearing loss, sensorineural - geneticsen_HK
dc.subject.meshLoss of heterozygosityen_HK
dc.subject.meshThyroid gland - chemistryen_HK
dc.titleMolecular analysis of the PDS gene in Pendred syndrome (sensorineural hearing loss and goitre)en_HK
dc.typeArticleen_HK
dc.identifier.openurlhttp://library.hku.hk:4550/resserv?sid=HKU:IR&issn=0964-6906&volume=7&issue=7&spage=1105&epage=1112&date=1998&atitle=Molecular+analysis+of+the+PDS+gene+in+Pendred+syndromeen_HK
dc.identifier.emailTsui, LC: tsuilc@hkucc.hku.hken_HK
dc.identifier.authorityTsui, LC=rp00058en_HK
dc.description.naturelink_to_OA_fulltexten_HK
dc.identifier.doi10.1093/hmg/7.7.1105en_HK
dc.identifier.pmid9618167en_HK
dc.identifier.scopuseid_2-s2.0-7144261720en_HK
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-7144261720&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume7en_HK
dc.identifier.issue7en_HK
dc.identifier.spage1105en_HK
dc.identifier.epage1112en_HK
dc.identifier.isiWOS:000074571900006-
dc.publisher.placeUnited Kingdomen_HK
dc.identifier.scopusauthoridCoyle, B=16745808600en_HK
dc.identifier.scopusauthoridReardon, W=7007059496en_HK
dc.identifier.scopusauthoridHerbrick, JA=6602297751en_HK
dc.identifier.scopusauthoridTsui, LC=7102754167en_HK
dc.identifier.scopusauthoridGausden, E=6507507873en_HK
dc.identifier.scopusauthoridLee, J=19435064100en_HK
dc.identifier.scopusauthoridCoffey, R=35474206500en_HK
dc.identifier.scopusauthoridGrueters, A=24447989900en_HK
dc.identifier.scopusauthoridGrossman, A=35401342800en_HK
dc.identifier.scopusauthoridPhelps, PD=7102210382en_HK
dc.identifier.scopusauthoridLuxon, L=7006701361en_HK
dc.identifier.scopusauthoridKendallTaylor, P=7007025285en_HK
dc.identifier.scopusauthoridScherer, SW=35374654500en_HK
dc.identifier.scopusauthoridTrembath, RC=7005504048en_HK

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