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  • 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

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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
  1. S P Pryor1,2,
  2. A C Madeo1,
  3. J C Reynolds3,
  4. N J Sarlis4,*,
  5. K S Arnos5,
  6. W E Nance6,
  7. Y Yang7,
  8. C K Zalewski1,
  9. C C Brewer1,
  10. J A Butman8,
  11. A J Griffith1,7
  1. 1Hearing Section, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD, USA
  2. 2Office of the Clinical Director, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD, USA
  3. 3Nuclear Medicine Department, Warren G. Magnuson Clinical Center, National Institutes of Health, Bethesda, MD, USA
  4. 4Clinical Endocrinology Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD, USA
  5. 5Department of Biology, Gallaudet University, Washington, DC, USA
  6. 6Department of Human Genetics, Medical College of Virginia, Virginia Commonwealth University, Richmond, VA, USA
  7. 7Section on Gene Structure and Function, Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD, USA
  8. 8Diagnostic Radiology Department, Warren G. Magnuson Clinical Center, National Institutes of Health, Bethesda, MD, USA
  1. Correspondence to:
 Dr A J Griffith
 NIDCD/NIH, 5 Research Court, Room 2A-01, Rockville, MD 20850, USA; griffitanidcd.nih.gov

https://doi.org/10.1136/jmg.2004.024208

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    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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    Footnotes

    • ↵* Current address: Department of Endocrine Neoplasia and Hormonal Disorders, The University of Texas - M. D. Anderson Cancer Center, Houston, TX, USA.

    • This study was supported by NIDCD/NIH intramural research funds 1-Z01-DC-000060 and 1-Z01-DC-000064.

    • Conflict of interest: none declared.