Camille Lemattre

Centre Hospitalier Universitaire de Montpellier

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Emmanuelle Haquet

Centre Hospitalier Universitaire de Montpellier

Constance Wells

Centre Hospitalier Universitaire de Montpellier

Yannis Duffourd

Université de Bourgogne

David Geneviève

Inserm

Julien Thévenon

Université Grenoble Alpes

Pierre Rustin

Inserm

Sophie Nambot

Inserm

Jean‐François Deleuze

Fondation Jean Dausset-CEPH

B. Vuadelle

François Rivier

Physiologie et Médecine Expérimentale du Coeur et des Muscles

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Inserm

Centre Hospitalier Universitaire de Montpellier

Université de Montpellier

Génétique Médicale & Génomique Fonctionelle

Hôpital Arnaud de Villeneuve

Université de Bourgogne

Centre Hospitalier Universitaire Dijon Bourgogne

Centre National de la Recherche Scientifique

Université Bourgogne Franche-Comté

Fédération Hospitalo-Universitaire, Paris Center for Microbiome Medicine

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Report on three additional patients and genotype–phenotype correlation in SLC25A22-related disorders group

European Journal of Human Genetics (2019)

Camille Lemattre Marion Imbert‐Bouteille Vincent Gâtinois Paule Bénit Elodie Sanchez

Epileptic spasms

10.1038/s41431-019-0433-2

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TBL1XR1 mutations in Pierpont syndrome are not restricted to the recurrent p.Tyr446Cys mutation

American Journal of Medical Genetics Part A (2018)

Camille Lemattre Julien Thévenon Yannis Duffourd Sophie Nambot Emmanuelle Haquet

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.

Compound heterozygosity

10.1002/ajmg.a.40510

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Citations (11)