Accéder directement au contenu Accéder directement à la navigation
Article dans une revue

Anatomical and functional abnormalities on MRI in kabuki syndrome

Abstract : Kabuki syndrome (KS) is a rare congenital disorder (1/32000 births) characterized by distinctive facial features, intellectual disability, short stature, and dermatoglyphic and skeletal abnormalities. In the last decade, mutations in KMT2D and KDM6A were identified as a major cause of kabuki syndrome. Although genetic abnormalities have been highlighted in KS, brain abnormalities have been little explored. Here, we have investigated brain abnormalities in 6 patients with KS (4 males; Mage = 10.96 years, SD = 2.97 years) with KMT2D mutation in comparison with 26 healthy controls (17 males; Mage = 10.31 years, SD = 2.96 years). We have used MRI to explore anatomical and functional brain abnormalities in patients with KS. Anatomical abnormalities in grey matter volume were assessed by cortical and subcortical analyses. Functional abnormalities were assessed by comparing rest cerebral blood flow measured with arterial spin labeling-MRI. When compared to healthy controls, KS patients had anatomical alterations characterized by grey matter decrease localized in the bilateral precentral gyrus and middle frontal gyrus. In addition, KS patients also presented functional alterations characterized by cerebral blood flow decrease in the left precentral gyrus and middle frontal gyrus. Moreover, subcortical analyses revealed significantly decreased grey matter volume in the bilateral hippocampus and dentate gyrus in patients with KS. Our results strongly indicate anatomical and functional brain abnormalities in KS. They suggest a possible neural basis of the cognitive symptoms observed in KS, such as fine motor impairment, and indicate the need to further explore the consequences of such brain abnormalities in this disorder. Finally, our results encourage further imaging-genetics studies investigating the link between genetics, anatomical and functional brain alterations in KS.
Type de document :
Article dans une revue
Liste complète des métadonnées

https://hal.umontpellier.fr/hal-02573243
Contributeur : Amandine Michel-Avella <>
Soumis le : jeudi 14 mai 2020 - 11:50:37
Dernière modification le : mercredi 16 septembre 2020 - 17:52:02

Lien texte intégral

Identifiants

Citation

Jennifer Boisgontier, Jean Marc Tacchella, Hervé Lemaitre, Natacha Lehman, Ana Saitovitch, et al.. Anatomical and functional abnormalities on MRI in kabuki syndrome. Neuroimage-Clinical, Elsevier, 2019, 21, pp.101610. ⟨10.1016/j.nicl.2018.11.020⟩. ⟨hal-02573243⟩

Partager

Métriques

Consultations de la notice

58