A familial or sporadic recurrent hydatidiform mole is a rare autosomal recessive condition that has been associated with biallelic mutations in the nucleotide-binding, leucine-rich repeat, pyrin domain 7 (NLRP7) gene (19q13.42). Cases from different ethnic origins have been reported earlier. Here we report the first Tunisian patients: 2 sisters with homozygous NLRP7 mutations (p.E570X) and 1 sporadic case with no mutation in NLRP7. Our results extend the number of familial recurrent reproductive wastages due to mutations in NLRP7. We suggest that mutations screening of NLRP7 could be proposed more systematically in women with recurrent pathologic pregnancy outcomes of unknown origin. The rare cases with a typical clinical picture, which were not related to NLRP7 mutation as in our sporadic case, should be investigated more to identify the causative gene.
Laboratoire d'anatomie et de cytologie pathologiques (H.L., N.M., S.H., M.T.Y.)
Laboratoire de cytogénétique (M.G.), de génétique moléculaire et de biologie de la reproduction, CHU Farhat Hached, Sousse, Tunisie
Unité médicale des maladies autoinflammatoires (C.R., L.P., I.T.), Laboratoire de génétique, CHU Arnaud de Villeneuve-Montpellier, France
Supported by the University Hospital of Montpellier, the French Ministry of Health and the Research Unit “Cytopathology and epidemiology of cancer in the center of Tunisia,” UR 08.13/03, Medicine Faculty of Sousse, Tunisia.
Address correspondence and reprint requests to Hanène Landolsi, Laboratoire d'anatomie et de cytologie pathologiques, CHU Farhat Hached, Rue Ibn Eljazzar, Sousse, Tunisie 4000. e-mail: email@example.com