Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Ehlers-Danlos-Syndrom bei Tenascin-X-Mangel

Ehlers-Danlos-Syndrom bei Tenascin-X-Mangel ist eine autosomal rezessive Erkrankung die durch Mutationen im TNXB-Gen ausgelöst wird. Sie ist charakterisiert durch eine Hyperelastizität der Haut die auf eine kollagendysplasie zurückzuführen ist.

Gliederung

Angeborene Skelettfelbildungen
Ehlers-Danlos-Syndrom bei Tenascin-X-Mangel
TNXB
Kongenitale Kontraktur-Arachnodaktylie
Lippen-Kiefer-Gaumenspalte 11
Parodontales Ehlers-Danlos-Syndrom
Renale tubuläre Azidose mit Arthrogrypose
Syndrom der multiplen Synostosen 3
Tatton-Brown-Rahman-Syndrom
Townes-Brocks-Syndrome
Trigonocephalie 2
Van Maldergem-Syndrom 2

Referenzen:

1.

Burch GH et. al. (1997) Tenascin-X deficiency is associated with Ehlers-Danlos syndrome.

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2.

Schalkwijk J et. al. (2001) A recessive form of the Ehlers-Danlos syndrome caused by tenascin-X deficiency.

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3.

Zweers MC et. al. (2003) Haploinsufficiency of TNXB is associated with hypermobility type of Ehlers-Danlos syndrome.

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4.

Zweers MC et. al. (2005) Elastic fiber abnormalities in hypermobility type Ehlers-Danlos syndrome patients with tenascin-X mutations.

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5.

Pénisson-Besnier I et. al. (2013) Compound heterozygous mutations of the TNXB gene cause primary myopathy.

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6.

Larsson LG et. al. (1987) Hypermobility: features and differential incidence between the sexes.

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7.

Rikken-Bultman DG et. al. (1997) Hypermobility in two Dutch school populations.

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8.

Kirschner J et. al. (2005) Ullrich congenital muscular dystrophy: connective tissue abnormalities in the skin support overlap with Ehlers-Danlos syndromes.

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9.

Lindor NM et. al. (2005) Tenascin-X deficiency in autosomal recessive Ehlers-Danlos syndrome.

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10.

Voermans NC et. al. (2007) Ehlers-Danlos syndrome due to tenascin-X deficiency: muscle weakness and contractures support overlap with collagen VI myopathies.

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11.

Voermans NC et. al. (2009) Neuromuscular involvement in various types of Ehlers-Danlos syndrome.

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12.

Chen W et. al. (2009) The phenotypic spectrum of contiguous deletion of CYP21A2 and tenascin XB: quadricuspid aortic valve and other midline defects.

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13.

Voermans NC et. al. (2014) Compound heterozygous mutations of the TNXB gene cause primary myopathy.

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