Fiche publication
Date publication
février 2017
Journal
Clinical genetics
Auteurs
Membres identifiés du Cancéropôle Est :
Pr HUET Frédéric
,
Pr FAIVRE Laurence
,
Pr KUENTZ Paul
Tous les auteurs :
Bruel AL, Masurel-Paulet A, Rivière JB, Duffourd Y, Lehalle D, Bensignor C, Huet F, Borgnon J, Roucher F, Kuentz P, Deleuze JF, Thauvin-Robinet C, Faivre L, Thevenon J
Lien Pubmed
Résumé
We report on a boy with a rare malformative association of scrotum agenesis, ophthalmological anomalies, cerebellar malformation, facial dysmorphism and global development delay. The reported patient was carrying a homozygous frameshift in MAB21L1 detected by whole-exome sequencing, considered as the most likely disease-causing variant. Mab21l1 knockout mice present a strikingly similar malformative association of ophthalmological malformations of the anterior chamber and preputial glands hypoplasia. We hypothesize that MAB21L1 haploinsufficiency cause a previously undescribed syndrome with scrotal agenesis, ophthalmological anomalies, facial dysmorphism and gross psychomotor delay as remarkable hallmarks. Four cases from the literature were reported with features suggestive of a similar and recognizable clinical entity. We hypothesize that MAB21L1 should be the culprit gene in these patients.
Mots clés
MAB21L1, intellectual disability, scrotal agenesis, whole-exome sequencing
Référence
Clin. Genet.. 2017 Feb;91(2):333-338
