Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

NACHT, LRR and PYD domains-containing protein 7

The NLRP7 gene encodes a protein with various regulatory functions. Mutations cause autosomal recessive recurrent hydatidiform mole 1 and may also play a role in hypomethylation syndrome.

Genetests:

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

Related Diseases:

Recurrent hydatidiform mole 1
NLRP7
Hypomethylation syndrome
DNMT1
DNMT3A
DNMT3B
KHDC3L
MECP2
NLRP2
NLRP7
Recurrent hydatidiform mole 1
NLRP7
Recurrent hydatidiform mole 2
KHDC3L
ZFP57

References:

1.

Caliebe A et. al. (2014) A familial disorder of altered DNA-methylation.

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2.

Tschopp J et. al. (2003) NALPs: a novel protein family involved in inflammation.

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3.

Vejerslev LO et. al. (1991) Hydatidiform mole and fetus with normal karyotype: support of a separate entity.

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4.

Moglabey YB et. al. (1999) Genetic mapping of a maternal locus responsible for familial hydatidiform moles.

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5.

Sensi A et. al. (2000) Mole maker phenotype: possible narrowing of the candidate region.

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6.

Ozalp S et. al. (2001) Recurrent molar pregnancy: report of a case with seven consecutive hydatidiform moles.

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7.

Fisher RA et. al. (2002) The maternally transcribed gene p57(KIP2) (CDNK1C) is abnormally expressed in both androgenetic and biparental complete hydatidiform moles.

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8.

Agarwal P et. al. (2004) Familial recurrent molar pregnancy: a case report.

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9.

Okada K et. al. (2004) Oncogenic role of NALP7 in testicular seminomas.

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10.

Kinoshita T et. al. (2005) PYPAF3, a PYRIN-containing APAF-1-like protein, is a feedback regulator of caspase-1-dependent interleukin-1beta secretion.

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11.

Zhao J et. al. (2006) Analysis of the chromosomal region 19q13.4 in two Chinese families with recurrent hydatidiform mole.

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12.

Murdoch S et. al. (2006) Mutations in NALP7 cause recurrent hydatidiform moles and reproductive wastage in humans.

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13.

Djuric U et. al. (2006) Familial molar tissues due to mutations in the inflammatory gene, NALP7, have normal postzygotic DNA methylation.

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14.

Deveault C et. al. (2009) NLRP7 mutations in women with diploid androgenetic and triploid moles: a proposed mechanism for mole formation.

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15.

Wang CM et. al. (2009) Identification of 13 novel NLRP7 mutations in 20 families with recurrent hydatidiform mole; missense mutations cluster in the leucine-rich region.

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16.

Slim R et. al. (2009) A strong founder effect for two NLRP7 mutations in the Indian population: an intriguing observation.

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17.

Andreasen L et. al. (2012) Mosaic moles and non-familial biparental moles are not caused by mutations in NLRP7, NLRP2 or C6orf221.

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18.

Fallahian M et. al. (2013) Mutations in NLRP7 and KHDC3L confer a complete hydatidiform mole phenotype on digynic triploid conceptions.

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19.

Huang JY et. al. (2013) A genetic association study of NLRP2 and NLRP7 genes in idiopathic recurrent miscarriage.

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20.

Mahadevan S et. al. (2014) NLRP7 affects trophoblast lineage differentiation, binds to overexpressed YY1 and alters CpG methylation.

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21.

Nguyen NM et. al. (2014) Comprehensive genotype-phenotype correlations between NLRP7 mutations and the balance between embryonic tissue differentiation and trophoblastic proliferation.

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22.

Aghajanova L et. al. (2015) No evidence for mutations in NLRP7, NLRP2 or KHDC3L in women with unexplained recurrent pregnancy loss or infertility.

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Update: Sept. 26, 2018