Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Leiomyomatosis with Alport syndrome, Smooth muscle tumors and Alport syndrome

Leiomyomatosis with Alport syndrome is a contiguous gene deletion that involves the beginning of the two genes COL4A5 and COL4A6. A diagnosis is possible by MLPA.

Systematic

Glomerular basement membrane disorders
Alport Syndrome
HANAC syndrome
Leiomyomatosis with Alport syndrome, Smooth muscle tumors and Alport syndrome
COL4A5
COL4A6
MYH9 related disorders
Nail-patella syndrome
Nephropathy with pretibial epidermolysis bullosa and deafness
PXDN
Thin basement membrane nephropathy

References:

1.

Heidet L et al. (1995) Deletions of both alpha 5(IV) and alpha 6(IV) collagen genes in Alport syndrome and in Alport syndrome associated with smooth muscle tumours.

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2.

Zhou J et al. (1993) Deletion of the paired alpha 5(IV) and alpha 6(IV) collagen genes in inherited smooth muscle tumors.

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3.

Anker MC et al. (2003) Alport syndrome with diffuse leiomyomatosis.

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4.

None (1953) Giant intramural leiomyoma of esophagus; a case report.

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5.

JOHNSTON JB et al. (1953) Smooth-muscle tumours of the oesophagus.

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6.

BLANK E et al. (1963) MUSCULAR HYPERTROPHY OF THE ESOPHAGUS: REPORT OF A CASE WITH INVOLVEMENT OF THE ENTIRE ESOPHAGUS.

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7.

Legius E et al. (1990) Muscular hypertrophy of the oesophagus and "Alport-like" glomerular lesions in a boy.

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8.

Leichter HE et al. (1988) Alport's syndrome and achalasia.

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9.

Cochat P et al. (1988) Diffuse leiomyomatosis in Alport syndrome.

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10.

Srivastava AK et al. (1995) YAC contigs mapping the human COL4A5 and COL4A6 genes and DXS118 within Xq21.3-q22.

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11.

Renieri A et al. (1994) Deletion spanning the 5' ends of both the COL4A5 and COL4A6 genes in a patient with Alport's syndrome and leiomyomatosis.

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12.

Heidet L et al. (1997) Novel COL4A5/COL4A6 deletions and further characterization of the diffuse leiomyomatosis-Alport syndrome (DL-AS) locus define the DL critical region.

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13.

Segal Y et al. (1999) LINE-1 elements at the sites of molecular rearrangements in Alport syndrome-diffuse leiomyomatosis.

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14.

OMIM.ORG article

Omim 308940 [^]
Update: May 9, 2019