Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Pendred-Syndrom

Das Pendred-Syndrom ist eine autosomal rezessive Erkrankung, die durch Mutationen im SLC26A4-Gen ausgelöst wird und durch eine Hypothyreose mit Struma und Schwerhörigkeit charakterisiert ist.

Gliederung

Thyroiddyshormonogenesis
Pendred-Syndrom
SLC26A4
Thyroiddyshormonogenesis 1
Thyroiddyshormonogenesis 2a
Thyroiddyshormonogenesis 3
Thyroiddyshormonogenesis 4
Thyroiddyshormonogenesis 5
Thyroiddyshormonogenesis 6

Referenzen:

1.

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

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2.

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

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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.

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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5.

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

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6.

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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7.

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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8.

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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9.

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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10.

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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11.

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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12.

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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13.

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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14.

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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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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