Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Ehlers-Danlos syndrome due to tenascin-X deficiency

Ehlers-Danlos syndrome due to tenascin-X deficiency is an autosomal recessive disorder caused by mutations of the TNXB gene. It is characterizes by hyperelasticity of the skin due to collagen dysplasia.

Systematic

Inborn skeletal malformations
Al-Gazali-Bakalinova syndrome
Brachydactyly
Branchio-oculo-facial syndrome
Congenital contractural arachnodactyly
Ehlers-Danlos syndrome due to tenascin-X deficiency
TNXB
Hydrolethalus 2
Lacrimoauriculodentodigital syndrome
Multiple synostoses syndrome
Multiple synostoses syndrome 3
Orofacial cleft 11
Orofaciodigital syndrome
Periodontal Ehlers-Danlos syndrome
Proximal symphalangism
Renal tubular acidosis with arthrogryposis
Simpson-Golabi-Behmel syndrome
Stapes ankylosis with broad thumbs and toes
Syndactyly type 5
Synpolydactyly type 1
Tarsal-carpal coalition syndrome
Tatton-Brown-Rahman syndrome
Townes-Brocks syndrome
Trigonocephaly 2
Van Maldergem syndrome 2

References:

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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14.

OMIM.ORG article

Omim 606408 [^]
15.

Orphanet article

Orphanet ID 230839 [^]
Update: April 29, 2019