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Table of Contents
Vol. 58, No. 3, 2007
Issue release date: October 2007
Section title: Historical Note
Eur Neurol 2007;58:189–190
(DOI:10.1159/000104724)

Pendred’s Syndrome

Pearce J.M.S.
Emeritus Consultant Neurologist, Department of Neurology, Hull Royal Infirmary and Hull York Medical School, Hull, UK
email Corresponding Author

J.M.S. Pearce

304 Beverley Road

Anlaby, East Yorks HU10 7BG (UK)


Abstract

Vaughan Pendred, whilst still a junior doctor, wrote the original account of familial sensorineural deafness associated with goitre, now known as Pendred’s syndrome. His account is reproduced verbatim.

© 2007 S. Karger AG, Basel


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Introduction

Neurologists sometimes encounter Pendred’s syndrome, one of the most frequent causes of congenital deafness, accounting for about 10% of all cases of hereditary deafness. Pendred (1869–1946) was a Guy’s Hospital graduate and is said to have become a general practitioner. Pendred’s syndrome is an autosomal recessive disorder defined by congenital sensorineural deafness, goitre, and impaired iodide organification [1]. Patients are usually euthyroid. The sensorineural deafness is typically associated with a malformation of the inner ear in which the normal cochlear spiral of 2.5 turns is replaced by a hypoplastic coil of 1.5 turns, referred to as Mondini cochlea. It is caused by mutations in the pendrin (PDS) gene, a 21-exon gene located on chromosome 7q22–31.1 and expressed in the thyroid, the inner ear, and in the kidney. The administration of perchlorate in these patients results in a partial discharge of radiolabelled iodide from the thyroid, indicating an impaired organification of this trace element into thyroglobulin.

The Lancet of August 22, 1896, carries the report [2] from Pendred, as shown in figure 1:

Fig. 1

Pendred’s ‘Clinical Notes’, Lancet 1896.

http://www.karger.com/WebMaterial/ShowPic/268536

It was exactly a century later that Coyle et al. [3] and Sheffield et al. [4] in consecutive papers in Nature Genetics showed that the disorder maps to chromosome 7q.


References

  1. Gillam MP, Bartolone L, Kopp P, Bevenga S: Molecular analysis of the PDS gene in a nonconsanguineous Sicilian family with Pendred’s syndrome. Thyroid 2005;15:734–741.
  2. Pendred V: Deaf-mutism and goitre. Lancet 1896;2:532.
  3. Coyle B, Coffey R, Armour JA, Gausden E, Hochberg Z, Grossman A, Britton K, Pembrey, M, Reardon W, Trembath R: Pendred syndrome (goitre and sensorineural hearing loss) maps to chromosome 7 in the region containing the nonsyndromic deafness gene DFNB4. Nat Genet 1996;12:421–423.
  4. Sheffield VC, Kraiem Z, Beck JC, Nishimura D, Stone EM, Salameh M, Sadeh O, Glaser B: Pendred syndrome maps to chromosome 7q21–34 and is caused by an intrinsic defect in thyroid iodine organification. Nat Genet 1996;12:424–426.

Author Contacts

J.M.S. Pearce

304 Beverley Road

Anlaby, East Yorks HU10 7BG (UK)


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References

  1. Gillam MP, Bartolone L, Kopp P, Bevenga S: Molecular analysis of the PDS gene in a nonconsanguineous Sicilian family with Pendred’s syndrome. Thyroid 2005;15:734–741.
  2. Pendred V: Deaf-mutism and goitre. Lancet 1896;2:532.
  3. Coyle B, Coffey R, Armour JA, Gausden E, Hochberg Z, Grossman A, Britton K, Pembrey, M, Reardon W, Trembath R: Pendred syndrome (goitre and sensorineural hearing loss) maps to chromosome 7 in the region containing the nonsyndromic deafness gene DFNB4. Nat Genet 1996;12:421–423.
  4. Sheffield VC, Kraiem Z, Beck JC, Nishimura D, Stone EM, Salameh M, Sadeh O, Glaser B: Pendred syndrome maps to chromosome 7q21–34 and is caused by an intrinsic defect in thyroid iodine organification. Nat Genet 1996;12:424–426.