Fiche publication
Date publication
octobre 2018
Journal
American journal of medical genetics. Part A
Auteurs
Membres identifiés du Cancéropôle Est :
Pr FAIVRE Laurence
,
Dr NAMBOT Sophie
,
Pr KUENTZ Paul
Tous les auteurs :
Lemattre C, Thevenon J, Duffourd Y, Nambot S, Haquet E, Vuadelle B, Genevieve D, Sarda P, Bruel AL, Kuentz P, Wells CF, Faivre L, Willems M
Lien Pubmed
Résumé
Pierpont syndrome is a rare and sporadic syndrome, including developmental delay, facial characteristics, and abnormal extremities. Recently, a recurrent de novo TBL1XR1 variant (c.1337A > G; p.Tyr446Cys) has been identified in eight patients by whole-exome sequencing. A dominant-negative effect of this mutation is strongly suspected, since patients with TBL1XR1 deletion and other variants predicting loss of function do not share the same phenotype. We report two patients with typical Pierpont-like syndrome features. Exome sequencing allowed identifying a de novo heterozygous missense TBL1XR1 variant in both patients, different from those already reported: p.Cys325Tyr and p.Tyr446His. The localization of these mutations and clinical features of Pierpont-like syndrome suggest that their functional consequences are comparable with the recurrent mutation previously described, and provided additional data to understand molecular mechanisms of TBL1XR1 anomalies.
Mots clés
Pierpont syndrome, TBL1XR1
Référence
Am. J. Med. Genet. A. 2018 Oct 26;:
