Bi-allelic MED16 variants cause a MEDopathy with intellectual disability, motor delay, and craniofacial, cardiac, and limb malformations.

doi:10.1016/j.ajhg.2025.02.016

Article

Bi-allelic MED16 variants cause a MEDopathy with intellectual disability, motor delay, and craniofacial, cardiac, and limb malformations.

American journal of human genetics - 3 Apr 2025

Guillouet Charlotte, Agostini Valeria, Baujat Geneviève, Cocciadiferro Dario, Pippucci Tommaso, Lesieur-Sebellin Marion, Georget Mathieu, Schatz Ulrich, Fauth Christine, Louie Raymond J, Rogers Curtis, Davis Jessica M, Konstantopoulou Vassiliki, Mayr Johannes A, Bouman Arjan, Wilke Martina, VanNoy Grace E, England Eleina M, Park Kristen L, Brown Kathleen, Saenz Margarita, Novelli Antonio, Digilio Maria Cristina, Mastromoro Gioia, Rongioletti Mauro Ciro Antonio, Piacentini Gerardo, Kaiyrzhanov Rauan, Guliyeva Sughra, Hasanova Lala, Shears Deborah, Bhatnagar Ishita, Stals Karen, Klaas Oliver, Horvath Judit, Bouvagnet Patrice, Witmer P Dane, MacCarrick Gretchen, Cisarova Katarina, Good Jean-Marc, Gorokhova Svetlana, Boute Odile, Smol Thomas, Bruel Ange-Line, Patat Olivier, Broadbent Julia R, Tan Tiong Y, Tan Natalie B, Lyonnet Stanislas, Busa Tiffany, Graziano Claudio, Amiel Jeanne, Gordon Christopher T

Abstract excerpt

The Mediator complex regulates protein-coding gene transcription by coordinating the interaction of upstream enhancers with the basal transcription machinery at the promoter. Pathogenic variants in Mediator subunits typically lead to neurodevelopmental or neurodegenerative disorders with variable clinical presentations, designated as MEDopathies. Here, we report the identification of 25 individuals from 18...

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Bi-allelic MED16 variants cause a MEDopathy with intellectual disability, motor delay, and craniofacial, cardiac, and limb malformations.

Abstract excerpt

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