LETTER TO JMG

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

S P Pryor^1,2, A C Madeo¹, J C Reynolds³, N J Sarlis^4,*, K S Arnos⁵, W E Nance⁶, Y Yang⁷, C K Zalewski¹, C C Brewer¹, J A Butman⁸, A J Griffith^1,7

¹ Hearing Section, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD, USA
² Office of the Clinical Director, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD, USA
³ Nuclear Medicine Department, Warren G. Magnuson Clinical Center, National Institutes of Health, Bethesda, MD, USA
⁴ Clinical Endocrinology Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD, USA
⁵ Department of Biology, Gallaudet University, Washington, DC, USA
⁶ Department of Human Genetics, Medical College of Virginia, Virginia Commonwealth University, Richmond, VA, USA
⁷ Section 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 Diagnostic Radiology Department, Warren G. Magnuson Clinical Center, National Institutes of Health, Bethesda, MD, USA

Correspondence to:
Correspondence to:
Dr A J Griffith
NIDCD/NIH, 5 Research Court, Room 2A-01, Rockville, MD 20850, USA; griffita@nidcd.nih.gov

Received 17 June 2004
Revised version received 11 August 2004

Abbreviations: ANOVA, one way analysis of variance; CT, computed tomography; EVA, enlargement of the vestibular aqueduct; FIESTA, fast induction employing steady state excitation; MRI, magnetic resonance imaging; PD, Parkinson disease; PS, Pendred syndrome; SNP, single nucleotide polymorphism; SSCP, single strand conformation polymorphism; STR, short tandem repeat; VA, vestibular aqueduct

Keywords: complex trait; deafness; DFNB4; genotype-phenotype correlation; hearing

The first 150 words of the full text of this article appear below.

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 . . . [Full text of this article]

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