Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Allan-Herndon-Dudley-Syndrom

Das Allan-Herndon-Dudley-Syndrom ist eine Erkrankung mit geistiger Retardierung und muskulärer Atrophie, die auf einer Triiodthyronin-Resistenz (T3-Resistenz) beruht. Als Ursache finden sich Mutationen im SLC16A2-Gen. Die Vererbung ist x-chromosomal dominant.

Gliederung

Schilddrüsenhormonresistenz
Allan-Herndon-Dudley-Syndrom
SLC16A2
Autosomal dominante generalisierte Schilddrüsenhormonresistenz
Autosomal rezessive generalisierte Schilddrüsenhormonresistenz
Gestörter Schilddrüsenhormon-Stoffwechsel
RXRA
Selektive hypophysäre Schilddrüsenhormonresistenz

Referenzen:

1.

Passos-Bueno MR et. al. (1993) Severe nonspecific X-linked mental retardation caused by a proximally Xp located gene: intragenic heterogeneity or a new form of X-linked mental retardation?

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2.

Dumitrescu AM et. al. (2004) A novel syndrome combining thyroid and neurological abnormalities is associated with mutations in a monocarboxylate transporter gene.

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3.

Schwartz CE et. al. (2005) Allan-Herndon-Dudley syndrome and the monocarboxylate transporter 8 (MCT8) gene.

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4.

Maranduba CM et. al. (2006) Decreased cellular uptake and metabolism in Allan-Herndon-Dudley syndrome (AHDS) due to a novel mutation in the MCT8 thyroid hormone transporter.

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5.

Frints SG et. al. (2008) MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expression.

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6.

Bundey S et. al. (1977) Recurrence risks in families of children with symmetrical spasticity.

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7.

Bundey S et. al. (1991) Allan-Herndon syndrome--or X-linked cerebral palsy?

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8.

Stevenson RE et. al. (1990) Allan-Herndon syndrome. I. Clinical studies.

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9.

Schwartz CE et. al. (1990) Allan-Herndon syndrome. II. Linkage to DNA markers in Xq21.

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10.

Opitz JM et. al. (1984) Conference report: International Workshop on the fragile X and X-linked mental retardation.

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11.

May M et. al. (1995) Molecular analysis of four males with mental retardation and deletions of Xq21 places the putative MR region in Xq21.1 between DXS233 and CHM.

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12.

None (1993) X-linked mental retardation: in pursuit of a gene map.

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13.

Claes S et. al. (2000) Novel syndromic form of X-linked complicated spastic paraplegia.

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14.

Starling A et. al. (2002) Further evidence for a fourth gene causing X-linked pure spastic paraplegia.

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15.

Zorick TS et. al. (2004) Fine mapping and clinical reevaluation of a Brazilian pedigree with a severe form of X-linked mental retardation associated with other neurological dysfunction.

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16.

Bohan TP et. al. (2004) Allan-Herndon-Dudley syndrome: should the locus for this hereditary spastic paraplegia be designated SPG 22?

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17.

Papadimitriou A et. al. (2008) A novel monocarboxylate transporter 8 gene mutation as a cause of severe neonatal hypotonia and developmental delay.

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18.

Sijens PE et. al. (2008) 1H magnetic resonance spectroscopy in monocarboxylate transporter 8 gene deficiency.

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19.

Vaurs-Barrière C et. al. (2009) Pelizaeus-Merzbacher-Like disease presentation of MCT8 mutated male subjects.

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20.

Capri Y et. al. (2013) Relevance of different cellular models in determining the effects of mutations on SLC16A2/MCT8 thyroid hormone transporter function and genotype-phenotype correlation.

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