Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Recurrent hydatidiform mole type 1 is an autosomal recessive disorder caused by mutations of the KHDC3L gene.
Hypomethylation syndrome
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DNMT1
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DNMT3A
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DNMT3B
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KHDC3L
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MECP2
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NLRP2
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NLRP7
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Recurrent hydatidiform mole 1
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Recurrent hydatidiform mole 2
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KHDC3L
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ZFP57
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| 1. |
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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| 2. |
Fallahian M et al. (2013) Mutations in NLRP7 and KHDC3L confer a complete hydatidiform mole phenotype on digynic triploid conceptions.
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| 3. |
Judson H et al. (2002) A global disorder of imprinting in the human female germ line.
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| 4. |
Landolsi H et al. (2011) Screening for NLRP7 mutations in familial and sporadic recurrent hydatidiform moles: report of 2 Tunisian families.
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| 5. |
Parry DA et al. (2011) Mutations causing familial biparental hydatidiform mole implicate c6orf221 as a possible regulator of genomic imprinting in the human oocyte.
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| 6. |
Reddy R et al. (2013) Report of four new patients with protein-truncating mutations in C6orf221/KHDC3L and colocalization with NLRP7.
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| 7. |
OMIM.ORG article Omim 614293
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