Hydatidiform moles

Kircheisen, Renate; Ried, Thomas

doi:10.1093/oxfordjournals.humrep.a138795

Cited by 15 publications

(18 citation statements)

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“…So far, only seven familial cases have been reported (Ambani et al 1980;La Vecchia et al 1982;Parazzini et al 1984;Kircheisen and Ried 1991;Seoud et al 1995). In all these cases, HMs have never occurred in the mothers or in their daughters.…”

Section: Discussionmentioning

confidence: 99%

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A familial case of recurrent hydatidiform molar pregnancies with biparental genomic contribution

et al. 1999

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Hydatidiform mole is a benign trophoblastic neoplasia characterized by an abnormal development of the embryo and proliferation of placental villi. Using microsatellite markers amplified by the polymerase chain reaction, we have performed a genetic study on eight independent molar tissues occurring in two sisters. Karyotype and genotype data demonstrate a diploid and biparental constitution in seven of the analyzed moles suggesting a common mechanism underlying the etiology of the various molar pregnancies in this family. The data reported here suggest that complete and partial hydatidiform moles are not always separate entities and that women with familial recurrent hydatidiform moles are homozygous for an autosomal recessive mutation.

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Section: Discussionmentioning

confidence: 99%

“…Most of the recurrent HMs described in the literature are sporadic cases with very few being familial (Ambani et al 1980;La Vecchia et al 1982;Parazzini et al 1984;Kircheisen and Ried 1991). All these familial cases are of the complete hydatidiform type, and none of them has been studied at the molecular level.…”

Section: Introductionmentioning

confidence: 99%

A familial case of recurrent hydatidiform molar pregnancies with biparental genomic contribution

et al. 1999

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“…A careful revision of the families reported [6][7][8][9][10][11][12] suggests an autosomal recessive genotype of women experiencing recurrent familial molar pregnancies, as proposed by Helwani et al 12 Only one family has Candidate region for mole maker phenotype y been studied by molecular methods so far. 1 In this family the recurrent molar pregnancies demonstrated a biparental diploid chromosomal constitution.…”

Section: Discussionmentioning

confidence: 99%

“…[3][4][5] Familial HM (MIM 231090) is exceedingly rare, with only seven families having been reported so far. [6][7][8][9][10][11] Consanguinity was often noted between the partners, suggesting an autosomal recessive etiology in the conceptus genotype. 10 Recently Helwani et al 12 reported a family in which consanguinity was also noted between the parents of the women.…”

Section: Introductionmentioning

confidence: 99%

“…To map the hydatidiform mole locus, Moglabey et al 1 performed a genome-wide scan, using a combination of linkage search and homozygosity analysis, on a very complex Lebanese family, with extensive consanguinity, reported by Helwani et al 12 and on a German family. 9 A maternal gene was mapped to 19q13.3-q13.4 in a 15.2-cM interval flanked by D19S924 and D19S890. Here we report the molecular results of a study on a second family with recurrent hydatidiform molar pregnancies.…”

Section: Introductionmentioning

confidence: 99%

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Mole maker phenotype: possible narrowing of the candidate region

et al. 2000

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Recent data has suggested that familial recurrent hydatidiform mole is a rare autosomal recessive trait in women experiencing this gestational disease (MIM 231090). Here we provide molecular data on an additional family confirming that recurrent familial hydatidiform moles are diploid, biparental and arise from independent conceptions. A narrowing of the gene interval on chromosome 19q13.3-13.4 is suggested by haplotype analysis in two sisters.

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Women heterozygous forNALP7/NLRP7 mutations are at risk for reproductive wastage: report of two novel mutations

et al. 2007

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Familial recurrent hydatidiform moles are a rare recessive condition in which molar tissues have biparental contribution to their genome. One maternal locus responsible for this condition has been mapped to 19q13.4 and the causative gene, NALP7, identified (HUGOapproved nomenclature is now NLRP7). Here we report a first stop codon, c.295G>T (p.Glu99X) and a missense mutation, c.1970A>T (p.Asp657Val) in NLRP7 in two sisters with RHMs. We found these two mutations and a previously reported one, c.2078G>C (p.Arg693Pro) in a homozygous state, in males with normal reproductive outcomes. This suggests that NLRP7 is not required for normal spermatogenesis. The mother of the patients is heterozygous for Glu99X and had one stillbirth and three normal pregnancies. Our data on this new family and on heterozygous women from previously reported families indicate that women heterozygous for NLRP7 mutations are at risk for reproductive wastage without the manifestation of molar phenotype.

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Hydatidiform moles

Cited by 15 publications

References 0 publications

A familial case of recurrent hydatidiform molar pregnancies with biparental genomic contribution

A familial case of recurrent hydatidiform molar pregnancies with biparental genomic contribution

Mole maker phenotype: possible narrowing of the candidate region

Women heterozygous forNALP7/NLRP7 mutations are at risk for reproductive wastage: report of two novel mutations

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