Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Pendred syndrome

Pendred syndrome is an autosomal recessive disorder caused by mutations in the SLC26A4 gene. It is characterized by hypothyroidism, goiter and sensorineural deafness.

Systematic

Thyroid dyshormonogenesis
Pendred syndrome
SLC26A4
Thyroid dyshormonogenesis 1
Thyroid dyshormonogenesis 2a
Thyroid dyshormonogenesis 3
Thyroid dyshormonogenesis 4
Thyroid dyshormonogenesis 5
Thyroid dyshormonogenesis 6

References:

1.

Park SM et al. (2005) Genetics of congenital hypothyroidism.

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2.

Yang T et al. (2007) Transcriptional control of SLC26A4 is involved in Pendred syndrome and nonsyndromic enlargement of vestibular aqueduct (DFNB4).

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3.

Everett LA et al. (1997) Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS).

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4.

Campbell C et al. (2001) Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations.

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5.

Tsukamoto K et al. (2003) Distribution and frequencies of PDS (SLC26A4) mutations in Pendred syndrome and nonsyndromic hearing loss associated with enlarged vestibular aqueduct: a unique spectrum of mutations in Japanese.

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6.

Pryor SP et al. (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.

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7.

Reardon W et al. (1997) Pendred syndrome--100 years of underascertainment?

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8.

Kopp P et al. (1999) Phenocopies for deafness and goiter development in a large inbred Brazilian kindred with Pendred's syndrome associated with a novel mutation in the PDS gene.

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9.

Masmoudi S et al. (2000) Pendred syndrome: phenotypic variability in two families carrying the same PDS missense mutation.

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10.

Fugazzola L et al. (2000) Molecular analysis of the Pendred's syndrome gene and magnetic resonance imaging studies of the inner ear are essential for the diagnosis of true Pendred's syndrome.

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11.

Everett LA et al. (2001) Targeted disruption of mouse Pds provides insight about the inner-ear defects encountered in Pendred syndrome.

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12.

Royaux IE et al. (2001) Pendrin, encoded by the Pendred syndrome gene, resides in the apical region of renal intercalated cells and mediates bicarbonate secretion.

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13.

Taylor JP et al. (2002) Mutations of the PDS gene, encoding pendrin, are associated with protein mislocalization and loss of iodide efflux: implications for thyroid dysfunction in Pendred syndrome.

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14.

Massa G et al. (2003) Solitary thyroid nodule as presenting symptom of Pendred syndrome caused by a novel splice-site mutation in intron 8 of the SLC26A4 gene.

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15.

Pourová R et al. (2010) Spectrum and frequency of SLC26A4 mutations among Czech patients with early hearing loss with and without Enlarged Vestibular Aqueduct (EVA).

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16.

Cave WT et al. (1975) Studies on the thyroidal defect in an atypical form of Pendred's syndrome.

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17.

van Wouwe JP et al. (1986) A patient with dup(10p)del(8q) and Pendred syndrome.

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18.

Gomez-Pan A et al. (1974) Pituitary-thyroid function in Pendred's syndrome.

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19.

Furth ED et al. (1967) Familial goiter due to an organification defect in euthyroid siblings.

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20.

Milutinovic PS et al. (1969) Thyroid function in a family with the Pendred syndrome.

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21.

Illum P et al. (1972) Fifteen cases of Pendred's syndrome. Congenital deafness and sporadic goiter.

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22.

Burrow GN et al. (1973) Normal peroxidase activity in Pendred's syndrome.

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23.

Desai KB et al. (1974) Thyroidal iodopriteins in Pendred's syndrome.

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24.

Ljunggren JG et al. (1973) The concentration of peroxidase in normal and adenomatous human thyroid tissue with special reference to patients with Pendred's syndrome.

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25.

Medeiros-Neto GA et al. (1968) Thyroidal iodoproteins in Pendred's syndrome.

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26.

Thompson J et al. (1970) A family with deafness, goitre, epilepsy and low intelligence segregating independently.

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27.

Bargman GJ et al. (1967) Otic lesions and congenital hypothyroidism in the developing chick.

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28.

Coyle B et al. (1996) Pendred syndrome (goitre and sensorineural hearing loss) maps to chromosome 7 in the region containing the nonsyndromic deafness gene DFNB4.

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29.

Sheffield VC et al. (1996) Pendred syndrome maps to chromosome 7q21-34 and is caused by an intrinsic defect in thyroid iodine organification.

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30.

Gausden E et al. (1996) Thyroid peroxidase: evidence for disease gene exclusion in Pendred's syndrome.

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31.

Gausden E et al. (1997) Pendred syndrome: evidence for genetic homogeneity and further refinement of linkage.

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32.

Coucke P et al. (1997) The gene for Pendred syndrome is located between D7S501 and D7S692 in a 1.7-cM region on chromosome 7q.

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33.

Phelps PD et al. (1998) Radiological malformations of the ear in Pendred syndrome.

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34.

Cremers WR et al. (1998) Progressive sensorineural hearing loss and a widened vestibular aqueduct in Pendred syndrome.

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35.

Reardon W et al. (1999) Prevalence, age of onset, and natural history of thyroid disease in Pendred syndrome.

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36.

Reardon W et al. (2000) Enlarged vestibular aqueduct: a radiological marker of pendred syndrome, and mutation of the PDS gene.

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37.

None (1957) A report of the occurrence of deaf-mutism and goiter in four of six siblings of a North American family.

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38.

None (1958) Familial association of nerve deafness with nodular goiter and thyroid carcinoma.

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39.

FRASER GR et al. (1960) The syndrome of sporadic goitre and congenital deafness.

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40.

BATSAKIS JG et al. (1962) Deafness with sporadic goiter. Pendred's syndrome.

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41.

HOLLANDER CS et al. (1964) CONGENITAL DEAFNESS AND GOITER. STUDIES OF A PATIENT WITH A COCHLEAR DEFECT AND INADEQUATE FORMATION OF IODOTHYRONINES.

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42.

None (1965) ASSOCIATION OF CONGENITAL DEAFNESS WITH GOITRE (PENDRED'S SYNDROME) A STUDY OF 207 FAMILIES.

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43.

STANBURY JB et al. (1950) A study of a family of goitrous cretins.

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44.

OMIM.ORG article

Omim 274600 [^]
45.

Orphanet article

Orphanet ID 705 [^]
46.

Wikipedia article

Wikipedia EN (Pendred_syndrome) [^]
Update: April 29, 2019