Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Notch homolog 2

The NOTCH2 gene encodes a membrane receptor that is responsible for signal transduction to the nucleus and transcription control. Mutations cause autosomal dominant Hajdu-Cheney syndrome and Alagille syndrome 2. Both include urogenital malformations with renal cysts.

Genetests:

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

Related Diseases:

Alagille syndrome 2
NOTCH2
Hajdu-Cheney syndrome
NOTCH2

References:

1.

Larsson C et. al. (1994) The human NOTCH1, 2, and 3 genes are located at chromosome positions 9q34, 1p13-p11, and 19p13.2-p13.1 in regions of neoplasia-associated translocation.

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2.

Kaplan P et. al. (1995) Cystic kidney disease in Hajdu-Cheney syndrome.

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3.

Katsanis N et. al. (1996) Paralogy mapping: identification of a region in the human MHC triplicated onto human chromosomes 1 and 9 allows the prediction and isolation of novel PBX and NOTCH loci.

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4.

Rosser EM et. al. (1996) Serpentine fibula syndrome: expansion of the phenotype with three affected siblings.

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5.

Blaumueller CM et. al. (1997) Intracellular cleavage of Notch leads to a heterodimeric receptor on the plasma membrane.

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6.

Gao X et. al. (1998) Assignment of the murine Notch2 and Notch3 genes to chromosomes 3 and 17.

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7.

Ramos FJ et. al. (1998) Further evidence that the Hajdu-Cheney syndrome and the "serpentine fibula-polycystic kidney syndrome" are a single entity.

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8.

Loomes KM et. al. (1999) The expression of Jagged1 in the developing mammalian heart correlates with cardiovascular disease in Alagille syndrome.

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9.

McCright B et. al. (2001) Defects in development of the kidney, heart and eye vasculature in mice homozygous for a hypomorphic Notch2 mutation.

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10.

Loomes KM et. al. (2002) Characterization of Notch receptor expression in the developing mammalian heart and liver.

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11.

Mitsiadis TA et. al. (2003) Notch2 protein distribution in human teeth under normal and pathological conditions.

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12.

Krebs LT et. al. (2003) Notch signaling regulates left-right asymmetry determination by inducing Nodal expression.

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13.

McDaniell R et. al. (2006) NOTCH2 mutations cause Alagille syndrome, a heterogeneous disorder of the notch signaling pathway.

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14.

Albano LM et. al. (2007) Phenotypic overlap in Melnick-Needles, serpentine fibula-polycystic kidney and Hajdu-Cheney syndromes: a clinical and molecular study in three patients.

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15.

Riccio O et. al. (2008) Loss of intestinal crypt progenitor cells owing to inactivation of both Notch1 and Notch2 is accompanied by derepression of CDK inhibitors p27Kip1 and p57Kip2.

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16.

Wu Y et. al. (2010) Therapeutic antibody targeting of individual Notch receptors.

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17.

Simpson MA et. al. (2011) Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss.

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18.

Isidor B et. al. (2011) Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis.

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19.

Rios AC et. al. (2011) Neural crest regulates myogenesis through the transient activation of NOTCH.

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20.

Majewski J et. al. (2011) Mutations in NOTCH2 in families with Hajdu-Cheney syndrome.

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21.

Gray MJ et. al. (2012) Serpentine fibula polycystic kidney syndrome is part of the phenotypic spectrum of Hajdu-Cheney syndrome.

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Update: Sept. 26, 2018