Recurrent hydatidiform moles

Definition:

Hydatidiform mole (HYDM) is an abnormal human pregnancy composed of hyperproliferative trophoblast occurring in approximately 1 in every 1500 pregnancies in Europe and North America. This incidence is higher in other areas in the world. Recurrent hydatidiform mole (RHM), the familial cases of the disease, is an autosomal recessive disorder in which molar tissues are diploid and have a biparental contribution to their genome. The molar tissues show abnormal epigenetic marking of maternal imprinted genes. Affected women have biallelic mutations in the NLRP7 gene (NALP7), a gene thought to be involved in inflammatory and apoptotic pathways.

References:

[1]. Ngoc Minh Phuong Nguyen, et al. Causative Mutations and Mechanism of Androgenetic Hydatidiform Moles. Am J Hum Genet. 2018 Nov 1;103(5):740-751. [Content Brief]

[2]. Ramesh Reddy, et al. Report of four new patients with protein-truncating mutations in C6orf221/KHDC3L and colocalization with NLRP7. Eur J Hum Genet. 2013 Sep;21(9):957-64. [Content Brief]

[3]. Sharlene Murdoch, et al. Mutations in NALP7 cause recurrent hydatidiform moles and reproductive wastage in humans. Nat Genet. 2006 Mar;38(3):300-2. [Content Brief]

[4]. Timothy H Bestor, et al. Genetics and epigenetics of hydatidiform moles. Nat Genet. 2006 Mar;38(3):274-6. [Content Brief]

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