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Arch Pathol Lab Med. 2012 Jun;136(6):646-51. doi: 10.5858/arpa.2011-0399-OA.

NLRP7 mutation analysis in sporadic hydatidiform moles in Tunisian patients: NLRP7 and sporadic mole.

Author information

1
Laboratoire d’anatomie et decytologie pathologiques-CHU, Farhat Hached, Rue Ibn Eljazzar, Sousse 4000, Tunisia. h_landolsi@yahoo.fr

Abstract

CONTEXT:

Hydatidiform mole, an aberrant human pregnancy, is commonly a nonrecurrent disease. Recently, a rare autosomal recessive form of familial and/or recurrent molar pregnancies was associated with mutations in the NLRP7 gene.

OBJECTIVE:

To investigate whether NLRP7 mutations exist in Tunisian women with sporadic hydatidiform moles.

DESIGN:

Genomic DNA from 38 unrelated Tunisian patients with sporadic hydatidiform moles were screened by sequencing all NLRP7 exons. A high-resolution melting curve analysis was performed on 170 DNA controls to analyze new sequence variants.

RESULTS:

More than 13% of these patients were heterozygous for NLRP7 mutations. We found 2 novel missense mutations in the heterozygous state, c.544G>A (p.Val182Met) in 1 patient and c.1480G>A (p.Ala494Thr) in 2 patients, and 2 already reported mutations, c.1532A>G (p.Lys511Arg) and c.2156C>T (p.Ala719Val), in 2 patients. None of these mutations were identified in 170 controls except for 1 woman who was heterozygous for p.Val182Met.

CONCLUSION:

As homozygous NLRP7 mutations are associated with recurrent hydatidiform mole or conception loss, the heterozygous state could represent a risk factor for nonrecurrent mole.

PMID:
22646272
DOI:
10.5858/arpa.2011-0399-OA
[Indexed for MEDLINE]

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