A novel mutation in the transmembrane 6 domain of GABBR2 leads to a Rett-like phenotype

Marie-Laure Vuillaume; Mederic Jeanne; Li Xue; Sophie Blesson; Anne-Sophie Denomme-Pichon; Servane Alirol; Celine Brulard; Estelle Colin; Bertrand Isidor; Brigitte Gilbert-Dussardier; Sylvie Odent; Philippe Parent; Audrey Donnart; Richard Redon; Stephane Bezieau; Philippe Rondard; Frederic Laumonnier; Annick Toutain

doi:10.1002/ana.25155

Journal articles

A novel mutation in the transmembrane 6 domain of GABBR2 leads to a Rett-like phenotype

Marie-Laure Vuillaume ^{1, 2} Mederic Jeanne ^{1, 2} Li Xue ³ Sophie Blesson ² Anne-Sophie Denomme-Pichon ^{4, 5} Servane Alirol ^{1, 2} Celine Brulard ^{1, 2} Estelle Colin ^{4, 5} Bertrand Isidor ⁶ Brigitte Gilbert-Dussardier ⁷ Sylvie Odent ^{8, 9} Philippe Parent ¹⁰ Audrey Donnart ¹¹ Richard Redon ¹¹ Stephane Bezieau ^{12, 13} Philippe Rondard ³ Frederic Laumonnier ^{1, 2} Annick Toutain ^{1, 2}

1 Imagerie et cerveau

2 CHRU TOURS - Centre Hospitalier Régional Universitaire de Tours

3 IGF - Institut de Génomique Fonctionnelle

4 BNMI - Biologie Neurovasculaire et Mitochondriale Intégrée

5 Département de Biochimie et Génétique [Angers]

6 Service de génétique médicale - Unité de génétique clinique [Nantes]

7 Service Génétique Médicale [CHU Poitiers]

8 CHU Pontchaillou [Rennes]

9 IGDR - Institut de Génétique et Développement de Rennes

10 CHU - BREST - Hôpital de la Cavale Blanche - CHRU Brest

11 ITX - unité de recherche de l'institut du thorax UMR1087 UMR6291

12 CHU Nantes - Centre hospitalier universitaire de Nantes

13 CRCINA - Département INCIT - Equipe 1 - Immunobiology of Human αβ and γδ T cells and Immunotherapeutic Applications

CRCINA - Centre de recherche de Cancérologie et d'Immunologie / Nantes - Angers

Abstract : We read with great interest the recent article published by Yooet al1reporting 4 additional Rett-like (RTT) patients with therecurring A567TGABBR2mutation.2More interestingly, theyshowed, with in vitro and in vivo functional studies, that theseverity of the phenotype caused byGABBR2mutations wasdirectly linked to their impact onc-aminobutyric acid (GABA)signaling activity, this latter being more reduced with the 2 mis-sense mutations, S695I and I705N, associated with epilepticencephalopathy (EE).1,3They hypothesized that the position ofvariants in different transmembrane (TM) domains ofGABBR2,TM6 for S695I and I705N, and TM3 for A567T, could deter-mine the phenotypic expression. This hypothesis was recentlyreinforced with the report of a novelGABBR2mutation also inTM6 and associated with infantile epileptic spasms.

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Life Sciences [q-bio] / Genetics

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