Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Tenascin XB

The TNXB gene encodes an extracellular matrix protein with anti-adhesive properties. Mutations are found in autosomal recessive Ehlers-Danlos syndrome and dominant familial vesicoureteral reflux 8.

Genetests:

Clinic Method Carrier testing
Turnaround 5
Specimen type genomic DNA
Research Method Multiplex Ligation-Dependent Probe Amplification
Turnaround 25
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25
Specimen type genomic DNA

Related Diseases:

Ehlers-Danlos syndrome due to tenascin-X deficiency
TNXB
Familial vesicoureteral reflux 8
TNXB

References:

1.

Matsumoto K et. al. (1992) Cluster of fibronectin type III repeats found in the human major histocompatibility complex class III region shows the highest homology with the repeats in an extracellular matrix protein, tenascin.

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2.

Gitelman SE et. al. (1992) Mechanism and consequences of the duplication of the human C4/P450c21/gene X locus.

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3.

Saga Y et. al. (1992) Mice develop normally without tenascin.

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4.

Xu X et. al. (1990) Presence of a vertebrate fibrinogen-like sequence in an echinoderm.

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5.

Morel Y et. al. (1989) Transcript encoded on the opposite strand of the human steroid 21-hydroxylase/complement component C4 gene locus.

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6.

Matsumoto K et. al. (1994) The distribution of tenascin-X is distinct and often reciprocal to that of tenascin-C.

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7.

Bristow J et. al. (1993) Tenascin-X: a novel extracellular matrix protein encoded by the human XB gene overlapping P450c21B.

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8.

Tee MK et. al. (1995) Sequences promoting the transcription of the human XA gene overlapping P450c21A correctly predict the presence of a novel, adrenal-specific, truncated form of tenascin-X.

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9.

Speek M et. al. (1996) Alternate promoters and alternate splicing of human tenascin-X, a gene with 5' and 3' ends buried in other genes.

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10.

None (1997) A tenascin knockout with a phenotype.

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11.

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

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12.

Ikuta T et. al. (1998) Structural analysis of mouse tenascin-X: evolutionary aspects of reduplication of FNIII repeats in the tenascin gene family.

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13.

Mao JR et. al. (2001) The Ehlers-Danlos syndrome: on beyond collagens.

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14.

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

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15.

Mao JR et. al. (2002) Tenascin-X deficiency mimics Ehlers-Danlos syndrome in mice through alteration of collagen deposition.

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16.

Koppens PF et. al. (2002) Carriership of a defective tenascin-X gene in steroid 21-hydroxylase deficiency patients: TNXB -TNXA hybrids in apparent large-scale gene conversions.

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17.

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

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18.

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

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19.

Gbadegesin RA et. al. (2013) TNXB mutations can cause vesicoureteral reflux.

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20.

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

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Update: Sept. 26, 2018