A strong founder effect for two <i>NLRP7</i> mutations in the Indian population: an intriguing observation

Abstract excerpt

To date, two maternal-effect genes have been shown to play causative roles in recurrent hydatidiform moles (RHMs); NLRP7 that is mutated in 48-60% of patients with RHMs and C6orf221 (HUGO approved nomenclature is now KHDC3L), a recently identified gene, that is mutated in 14% of patients with RHMs who are mostly negative for NLRP7 mutations.We sequenced KHDC3L in 97 patients with RHMs and reproductive loss who...

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