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


METHODS
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.


CONCLUSIONS
As homozygous NLRP7 mutations are associated with recurrent hydatidiform mole or conception loss, the heterozygous state could represent a risk factor for nonrecurrent mole.
Laboratoire d’anatomie et decytologie pathologiques-CHU, Farhat Hached, Rue Ibn Eljazzar, Sousse 4000, Tunisia. h_landolsi@yahoo.fr
Hanène
H
Landolsi
Cécile
C
Rittore
Laurent
L
Philibert
Sihem
S
Hmissa
Moez
M
Gribaa
Isabelle
I
Touitou
Mohamed Tahar
MT
Yacoubi
D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D004252:DNA Mutational Analysis; D005260:Female; D006720:Homozygote; D006801:Humans; D006828:Hydatidiform Mole / Q000235:genetics* / Q000473:pathology; D007150:Immunohistochemistry; D008875:Middle Aged; D009154:Mutation; D011247:Pregnancy; D017422:Sequence Analysis, DNA; D014416:Tunisia; D014594:Uterine Neoplasms / Q000235:genetics*; D055815:Young Adult
D048868:Adaptor Proteins, Signal Transducing; C502448:NLRP7 protein, human