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Center for Nephrology and Metabolic Disorders
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SAM domain-containing protein 9

The SAMD9 gene encodes a cytoplasmatic protein that is involved in regulation of cell proliferation and apoptosis. Dominant mutations cause MIRAGE syndrome and resessive mutations are responsible for familial normophosphatemic tumoral calcinosis.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

MIRAGE syndrome
SAMD9
Familial normophosphatemic tumoral calcinosis
SAMD9

References:

1.

Topaz O et al. (2004) Mutations in GALNT3, encoding a protein involved in O-linked glycosylation, cause familial tumoral calcinosis.

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2.

Topaz O et al. (2006) A deleterious mutation in SAMD9 causes normophosphatemic familial tumoral calcinosis.

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3.

Li CF et al. (2007) Human sterile alpha motif domain 9, a novel gene identified as down-regulated in aggressive fibromatosis, is absent in the mouse.

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4.

Chefetz I et al. (2008) Normophosphatemic familial tumoral calcinosis is caused by deleterious mutations in SAMD9, encoding a TNF-alpha responsive protein.

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5.

Asou H et al. (2009) Identification of a common microdeletion cluster in 7q21.3 subband among patients with myeloid leukemia and myelodysplastic syndrome.

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6.

Narumi S et al. (2016) SAMD9 mutations cause a novel multisystem disorder, MIRAGE syndrome, and are associated with loss of chromosome 7.

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Update: Aug. 14, 2020
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