The Gene for Pendred Syndrome Is Located between D7S501 and D7S692 in a 1.7-cM Region on Chromosome 7q

Coucke, Paul; Camp, Guy Van; Demırhan, Osman; Kabakkaya, Y; Balemans, Wendy; Hauwe, P. van; Agtmael, Tom Van; Smith, Richard J.H.; Parving, Agnete; Bolder, C.H.H.M.; Cremers, C.W.R.J.; Willems, Patrick J.

doi:10.1006/geno.1996.4541

Cited by 25 publications

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References 19 publications

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“…Pendred syndrome is an autosomal recessive disease originally described as being associated with congenital deafness and goiter (Pendred 1896). Recent advances in molecular genetics have revealed that the responsible gene is localized in 7q31 (Coucke et al 1997), and that the PDS gene (PDS ), the gene responsible for Pendred syndrome, is mutated in the patients (Everett et al 1997).…”

Section: Shin-ichi Usami · Satoko Abe · Mike D Weston Hideichi Shinkmentioning

confidence: 99%

Non-syndromic hearing loss associated with enlarged vestibular aqueduct is caused by PDS mutations

et al. 1999

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Enlarged vestibular aqueduct (EVA), known as the most common form of inner ear abnormality, has recently been of particular genetic interest because this anomaly is inherited in a recessive manner. The locus for non-syndromic sensorineural hearing loss with EVA has been mapped to the same chromosomal region, 7q31, as the Pendred syndrome locus. In the present study, seven mutations in the PDS gene (PDS), the gene responsible for Pendred syndrome, have been found in families of non-syndromic sensorineural hearing loss with EVA. One family is homozygous, three families are compound heterozygotes, and two families are heterozygous but with no other mutation detected. The present results provide evidence that mutations in PDS cause both syndromic and non-syndromic hearing loss.

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Section: Shin-ichi Usami · Satoko Abe · Mike D Weston Hideichi Shinkmentioning

confidence: 99%

Non-syndromic hearing loss associated with enlarged vestibular aqueduct is caused by PDS mutations

et al. 1999

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“…However, the majority of patients remain euthyroid [13]. It is now widely acknowledged that mutations in the gene SLC26A4 located on chromosome 7q21-34 [14,15] are involved in the presentation of an EVA/PDS phenotype [14,16,17]. Biallelic mutations in the gene SLC26A4 have been shown to cause Pendred syndrome, accounting for its autosomal recessive inheritance [9,14,18].…”

Section: Introductionmentioning

confidence: 99%

Lack of significant association between mutations of KCNJ10 or FOXI1 and SLC26A4 mutations in pendred syndrome/enlarged vestibular aqueducts

et al. 2013

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BackgroundPendred syndrome is a common autosomal recessive disorder causing deafness. Features include sensorineural hearing impairment, goitre, enlarged vestibular aqueducts (EVA) and occasionally Mondini dysplasia. Hearing impairment and EVA may occur in the absence of goitre or thyroid dyshormonogensis in a condition known as non-syndromic EVA. A significant number of patients with Pendred syndrome and non-syndromic EVA show only one mutation in SLC26A4. Two genes, KCNJ10, encoding an inwardly rectifying potassium channel and FOXI1, a transcriptional factor gene, are thought to play a role in the disease phenotypes.MethodsUsing Polymerase Chain Reaction and Sanger sequencing, sixty-eight patients with monoallelic mutations of SLC26A4 were tested for mutations in KCNJ10 and FOXI1.ResultsTwo variants were observed in the KCNJ10 gene, p.Arg271Cys in three patients and p.Arg18Gln in one patient; only one variant, p.Arg123Trp was observed in the FOXI1 gene in a single patient. Both p.Arg271Cys and p.Arg18Gln are likely to be polymorphisms as judged by their frequency in the general population.ConclusionTherefore we found no evidence for a significant association between mutations of KCNJ10 and FOXI1 with SLC26A4. It was also observed that the variant, p.Arg271Cys in KCNJ10, previously thought to have a protective effect against seizure susceptibility, was found in a patient with Pendred syndrome with co-existing epilepsy.

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“…Family 8 showed critical recombination in D7S501 (centromeric boundary), and the recombinant detected in Family 10 excluded the telomeric region from D7S2425. This region overlaps that for Pendred syndrome [Sheffield et al, 1996;Coyle et al, 1996;Gausden et al, 1997;Coucke et al, 1997], DFNB4 [Baldwin et al, 1995], and DNFB13 [Mustapha et al, 1998]. Thus, four different disorders have so far been mapped to the same region.…”

Section: Discussionmentioning

confidence: 82%

Fluctuating sensorineural hearing loss associated with enlarged vestibular aqueduct maps to 7q31, the region containing the pendred gene

et al. 1999

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The most common form of inner ear abnormality, enlarged vestibular aqueduct (EVA), is of particular interest because it is associated with characteristic clinical findings, including fluctuating and sometimes progressive sensorineural hearing loss and disequilibrium symptoms. Although EVA has been reported to be inherited in a recessive manner, nothing else is known about the genetic basis of this hearing loss. Here we report on the localization of the gene responsible for sensorineural hearing loss associated with EVA to chromosomal region 7q31, with maximum multipoint LOD score of 3.647. The EVA candidate gene region lies in a 1.7-cM interval between the flanking markers D7S501 and D7S2425. Interestingly, this region overlaps the region containing the gene responsible for Pendred syndrome, called PDS, which was identified recently. However, the present subjects did not fulfill the criteria for Pendred syndrome. It is hypothesized that different mutations within the PDS gene may cause different phenotypes ranging from EVA to the Mondini deformity seen in Pendred syndrome.

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The Gene for Pendred Syndrome Is Located between D7S501 and D7S692 in a 1.7-cM Region on Chromosome 7q

Cited by 25 publications

References 19 publications

Non-syndromic hearing loss associated with enlarged vestibular aqueduct is caused by PDS mutations

Non-syndromic hearing loss associated with enlarged vestibular aqueduct is caused by PDS mutations

Lack of significant association between mutations of KCNJ10 or FOXI1 and SLC26A4 mutations in pendred syndrome/enlarged vestibular aqueducts

Fluctuating sensorineural hearing loss associated with enlarged vestibular aqueduct maps to 7q31, the region containing the pendred gene

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