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

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

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Published inArchives of pathology & laboratory medicine (1976) Vol. 136; no. 6; pp. 646 - 651
Main Authors Landolsi, Hanène, Rittore, Cécile, Philibert, Laurent, Hmissa, Sihem, Gribaa, Moez, Touitou, Isabelle, Yacoubi, Mohamed Tahar
Format Journal Article
LanguageEnglish
Published United States College of American Pathologists 01.06.2012
Subjects
Adaptor Proteins, Signal Transducing - genetics
Adolescent
Adult
Analysis
Cytokines
DNA
DNA Mutational Analysis
Female
Genetic aspects
Homozygote
Humans
Hydatidiform Mole - genetics
Hydatidiform Mole - pathology
Immunohistochemistry
Middle Aged
Miscarriage
Mutation
Polymerase chain reaction
Pregnancy
Sequence Analysis, DNA
Tunisia
Uterine Neoplasms - genetics
Young Adult
Tunisia
France
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Summary: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. To investigate whether NLRP7 mutations exist in Tunisian women with sporadic hydatidiform moles. 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. 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. As homozygous NLRP7 mutations are associated with recurrent hydatidiform mole or conception loss, the heterozygous state could represent a risk factor for nonrecurrent mole.
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ISSN:0003-9985
1543-2165
1543-2165
DOI:10.5858/arpa.2011-0399-OA