The DOI matches its Crossref record; 15 of the 15 references it cites were found in a registry or an index.
SLC26A4/PDS genotype-phenotype correlation in hearing loss with enlargement of the vestibular aqueduct (EVA): evidence that Pendred syndrome and non-syndromic EVA are distinct clinical and genetic entities
Open accessAbstract
Enlargement of the vestibular aqueduct (EVA) and its contents, the endolymphatic sac and duct, is the most common radiologic malformation of the inner ear associated with sensorineural hearing loss.1 It may occur alone or in combination with an incomplete partition of the apical turn of the cochlea as part of a complex of malformations known as a Mondini deformity.2 Hearing loss in ears with EVA is typically pre- or perilingual in onset, sensorineural or mixed, and fluctuating or progressive. EVA may be unilateral or bilateral; asymmetry of the hearing loss and the anatomic defect is common in bilateral cases.3–5 EVA has been observed in Pendred syndrome (PS; MIM 274600),6 branchio-oto-renal syndrome (MIM 113650),7 CHARGE (MIM 214800),8 Waardenburg syndrome (MIM 193500, 193510, 600193, 606662),9 and distal renal tubular acidosis with deafness (MIM 267300).10 Familial non-syndromic hearing loss with EVA was described in 199611 and numerous subsequent reports (DFNB4 (MIM 600791), enlarged vestibular aqueduct syndrome (MIM 603545)). EVA is always detected when the ears of individuals with PS are evaluated by both computed tomography (CT) and magnetic resonance imaging (MRI),6 and it has been estimated that PS may comprise up to 10% of prelingual deafness worldwide.3,12,13 PS is inherited in an autosomal recessive manner and is comprised of bilateral hearing loss, EVA, and an iodine organification defect in the thyroid gland, which may lead to goitre. PS is clinically differentiated from non-syndromic EVA by the presence of the thyroid iodine organification defect because goitre is an incompletely penetrant feature of PS.3 When goitre does occur in PS, it is most often euthyroidal and not evident until the second decade of life.3,12,14,15 There can be intrafamilial variability of the goitre, and PS phenocopies with …
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Citations
Cites
Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS)
Everett, L. A., Glaser, B., Beck, J. C., Idol, J. R., Buchs, A., Heyman, M., Adawi, F., Hazani, E., Nassir, E., Baxevanis, A. D., et al. (1997) · Nature Genetics · doi:10.1038/ng1297-411 · Cited by 1,144
Perchlorate and the Thyroid Gland
Wolff, J. (1998) · Pharmacological Reviews · doi:10.1016/s0031-6997(24)01350-4 · Cited by 588
A mutation in PDS causes non-syndromic recessive deafness
Li, X. C., Everett, L. A., Lalwani, A. K., Desmukh, D., Friedman, T. B., Green, E. D., & Wilcox, E. R. (1998) · Nature Genetics · doi:10.1038/ng0398-215 · Cited by 392
Park, H.-J., Shaukat, S., Liu, X.-Z., Hahn, S. H., Naz, S., Ghosh, M., Kim, H.-N., Moon, S.-K., Abe, S., Tukamoto, K., et al. (2003) · Journal of Medical Genetics · doi:10.1136/jmg.40.4.242 · Cited by 317
Self-citationCampbell, C., Cucci, R. A., Prasad, S., Green, G. E., Edeal, J. B., Galer, C. E., Karniski, L. P., Sheffield, V. C., & Smith, R. J. H. (2001) · Human Mutation · doi:10.1002/humu.1116 · Cited by 297
Association of congenital deafness with goitre (Pendred's syndrome): A study of 207 families
FRASER, G. R. (1964) · Annals of Human Genetics · doi:10.1111/j.1469-1809.1964.tb00479.x · Cited by 248
Pendred syndrome--100 years of underascertainment?
Reardon, W. (1997) · QJM · doi:10.1093/qjmed/90.7.443 · Cited by 182
Hulander, M., Kiernan, A. E., Blomqvist, S. R., Carlsson, P., Samuelsson, E.-J., Johansson, B. R., Steel, K. P., & Enerbäck, S. (2003) · Development · doi:10.1242/dev.00376 · Cited by 180
Pankratz, N., Nichols, W. C., Uniacke, S. K., Halter, C., Murrell, J., Rudolph, A., Shults, C. W., Conneally, P. M., & Foroud, T. (2003) · Human Molecular Genetics · doi:10.1093/hmg/ddg270 · Cited by 151
Baldwin, C. T., Weiss, S., Farrer, L. A., de Stefano, A. L., Adair, R., Franklyn, B., Kídd, K. K., Korostishevsky, M., & Bonné, B. (1995) · Human Molecular Genetics · doi:10.1093/hmg/4.9.1637 · Cited by 97
Cited by
Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss
Oza, A. M., DiStefano, M. T., Hemphill, S. E., Cushman, B. J., Grant, A. R., Siegert, R. K., Shen, J., Chapin, A., Boczek, N. J., Schimmenti, L. A., et al. (2018) · Human Mutation · doi:10.1002/humu.23630 · Cited by 485
Self-citationKühnen, P., Turan, S., Fröhler, S., Güran, T., Abali, S., Biebermann, H., Bereket, A., Grüters, A., Chen, W., & Krude, H. (2014) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2013-2619 · Cited by 63
Metadata
- Authors
- Pryor, S. P., Madeo, A. C., Reynolds, J. C., Sarlis, N. J., Arnos, K. S., Nance, W. E., Yang, Y., Zalewski, C. K., Brewer, C. C., Butman, J. A., & Griffith, A. J.
- Venue
- Journal of Medical Genetics
- Publisher
- BMJ
- Published
- 2005-02
- Volume
- 42
- Issue
- 2
- Pages
- 159-165
- ISSN
- 0022-2593 (ISSN-L)
- 1468-6244
- OpenAlex
- W2153767327
- Cited by
- 256
- References
- 15
- FWCI
- 4.65
- Type
- journal article
- Language
- en
- Open access
- bronze
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- CoChat. (2026). Citation check: SLC26A4/PDS genotype-phenotype correlation in hearing loss with enlargement of the vestibular aqueduct (EVA): evidence that Pendred syndrome and non-syndromic EVA are distinct clinical and genetic entities. https://app.cochat.ai/papers/10.1136/jmg.2004.024208
- The paper
- Pryor, S. P., Madeo, A. C., Reynolds, J. C., Sarlis, N. J., Arnos, K. S., Nance, W. E., Yang, Y., Zalewski, C. K., Brewer, C. C., Butman, J. A., & Griffith, A. J. (2005). SLC26A4/PDS genotype-phenotype correlation in hearing loss with enlargement of the vestibular aqueduct (EVA): evidence that Pendred syndrome and non-syndromic EVA are distinct clinical and genetic entities. Journal of Medical Genetics. https://doi.org/10.1136/jmg.2004.024208
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
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