Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

APC membrane recruitment protein 1

The AMER1 gene encodes a transcription factor that upregulates the WT1 gene. Germline mutations lead to x-linked codominant Osteopathia striata with cranial sclerosis while somatic mutations are found in Wilms tumor cells.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Multiplex Ligation-Dependent Probe Amplification
Turnaround 20 days
Specimen type genomic DNA

Related Diseases:

Osteopathia striata with cranial sclerosis
AMER1

References:

1.

Jenkins ZA et al. (2009) Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis.

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2.

Perdu B et al. (2010) Osteopathia striata with cranial sclerosis owing to WTX gene defect.

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3.

Perdu B et al. (2011) Two novel WTX mutations underscore the unpredictability of male survival in osteopathia striata with cranial sclerosis.

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4.

Holman SK et al. (2011) The male phenotype in osteopathia striata congenita with cranial sclerosis.

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5.

König R et al. (1996) Osteopathia striata with cranial sclerosis: variable expressivity in a four generation pedigree.

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6.

Keymolen K et al. (1997) How to counsel in osteopathia striata with cranial sclerosis.

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7.

Savarirayan R et al. (1997) Osteopathia striata with cranial sclerosis: highly variable phenotypic expression within a family.

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8.

Rivera MN et al. (2007) An X chromosome gene, WTX, is commonly inactivated in Wilms tumor.

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9.

Ota T et al. (2004) Complete sequencing and characterization of 21,243 full-length human cDNAs.

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10.

Kimura K et al. (2006) Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.

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11.

Major MB et al. (2007) Wilms tumor suppressor WTX negatively regulates WNT/beta-catenin signaling.

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12.

Grohmann A et al. (2007) AMER1 regulates the distribution of the tumor suppressor APC between microtubules and the plasma membrane.

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13.

NCBI article

NCBI 139285 [^]
14.

OMIM.ORG article

Omim 300647 [^]
15.

Orphanet article

Orphanet ID 173515 [^]
Update: April 29, 2019