Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Rekurrente Blasenmole 2

Die rekurrente Blasenmole vom Typ 2 ist eine autosomal rezessive Erkrankung die durch Mutationen im KHDC3L-Gen hervorgerufen wird.

Gliederung

Hypomethylierungs-Syndrom
DNMT1
DNMT3A
DNMT3B
KHDC3L
MECP2
NLRP2
NLRP7
Rekurrente Blasenmole 1
Rekurrente Blasenmole 2
KHDC3L
ZFP57

Referenzen:

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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