The spectrum of NLRP7 mutations in French patients with recurrent hydatidiform mole

The p.L750V mutation in the NLRP7 gene is frequent in Mexican patients with recurrent molar pregnancies and is not associated with recurrent pregnancy loss

“…Molecular studies have demonstrated that the major gene associated with recurrent hydatidiform molar pregnancy is NLRP7 . Homozygous and heterozygous mutations have been reported in coding regions and splice donor sequences . Murdoch et al suggested that NLRP7 mutations may also be responsible for causing other forms of reproductive wastage, recurrent spontaneous abortions, stillbirths, and intrauterine growth retardation.…”

“…Molecular studies have demonstrated that the major gene associated with recurrent hydatidiform molar pregnancy is NLRP7. Homozygous and heterozygous mutations [6][7][8][9][10][11] have been reported in coding regions and splice donor sequences. 12 Murdoch et al .…”

Mutations inNLRP7 andKHDC3LConfer a Complete Hydatidiform Mole Phenotype on Digynic Triploid Conceptions

“…Mutations in two genes are known to be associated with familial recurrent hydatidiform moles (FRHM), NLRP7 (NALP7; MIM# 609661) [Murdoch et al., ] and KHDC3L ( C6orf221 ; MIM# 611687) [Parry et al., ]. Approximately 75% of cases of FRHM are homozygous or compound heterozygotes for nonsense mutations or pathological variants of NLRP7 [Buyukkurt et al., ; Deveault, et al., ; Dixon et al., ; Hayward et al., ; Kou et al., ; Landolsi et al., ; Messaed et al., ; Muhlstein et al., ; Murdoch et al., ; Puechberty et al., ; Qian et al., , ; Slim et al., ; Wang et al., ], whereas approximately 5% are associated with mutations in KHDC3L [Parry et al., ].…”

Mutations inNLRP7are associated with diploid biparental hydatidiform moles, but not androgenetic complete moles

“…Since this disorder was originally identified in families,5 several cases of individual women with recurrent BiCHM have also been described consistent with the pattern of inheritance for an autosomal recessive condition in small families. The major gene involved in this condition has been identified as NLRP7 and to date most cases of recurrent BiCHM, defined as two or more related women with recurrent CHM or a single woman with recurrent BiCHM, have been found to be homozygous or compound heterozygotes for nonsense mutations or pathological non-synonymous variants in NLRP7 9–16 18 29. A small number of further cases have been described in which single individuals have a reproductive history compatible with recurrent BiCHM and are homozygous or compound heterozygotes for mutations or pathological variants in NLRP7 , but in whom the origin of the CHM have not been reported9 10 13 15 17 19–21 29 and are likely to represent further cases of women with BiCHM.…”