Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Putative Polycomb group protein ASXL1

The ASXL1 gene encodes a protein that is probably involved in gene regulation. Mutations cause autosomal dominant Bohring-Opitz syndrome.

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:

Bohring-Opitz syndrome
ASXL1
Myelodysplastic syndrome
ASXL1

References:

1.

Nagase T et al. (1999) Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.

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2.

Hoischen A et al. (2011) De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome.

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3.

Magini P et al. (2012) Two novel patients with Bohring-Opitz syndrome caused by de novo ASXL1 mutations.

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4.

Gelsi-Boyer V et al. (2009) Mutations of polycomb-associated gene ASXL1 in myelodysplastic syndromes and chronic myelomonocytic leukaemia.

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5.

Carbuccia N et al. (2009) Mutations of ASXL1 gene in myeloproliferative neoplasms.

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6.

Fisher CL et al. (2003) A human homolog of Additional sex combs, ADDITIONAL SEX COMBS-LIKE 1, maps to chromosome 20q11.

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7.

Chou WC et al. (2010) Distinct clinical and biological features of de novo acute myeloid leukemia with additional sex comb-like 1 (ASXL1) mutations.

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8.

Park UH et al. (2011) Additional sex comb-like (ASXL) proteins 1 and 2 play opposite roles in adipogenesis via reciprocal regulation of peroxisome proliferator-activated receptor {gamma}.

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9.

Abdel-Wahab O et al. (2013) Deletion of Asxl1 results in myelodysplasia and severe developmental defects in vivo.

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10.

NCBI article

NCBI 171023 [^]
11.

OMIM.ORG article

Omim 612990 [^]
12.

Orphanet article

Orphanet ID 281482 [^]
13.

Wikipedia article

Wikipedia EN (ASXL1) [^]
Update: April 29, 2019