{
  "abstract": "We read with great interest the publication by Wang et al,1 which described three unrelated children under 5 years of age carrying genetic variants likely to induce UBTF (Upstream Binding Transcription Factor) haploinsufficiency. These children presented a phenotype characterised by intellectual disabilities, social challenges, and developmental delays in language and gross motor skills. The phenotype described by Wang et al is strikingly different from that observed in patients carrying the recurrent de novo p.(Glu210Lys) variant in UBTF, which causes childhood-onset neurodegeneration with brain atrophy (CONDBA, MIM 617672) through a gain of function mechanism.2 3",
  "authors": [
    {
      "affiliations": [
        "Service de Génétique, CRMR AnDDI-Rares, CHU de Reims, Reims, France"
      ],
      "name": "Tony Yammine"
    },
    {
      "affiliations": [
        "Service de Génétique Médicale, CHU de Nantes, Nantes, France",
        "Institut du Thorax, Université de Nantes, Nantes, Pays de la Loire, France"
      ],
      "name": "Sandra Mercier"
    },
    {
      "affiliations": [
        "Service de Génétique, CRMR AnDDI-Rares, CHU de Reims, Reims, France"
      ],
      "name": "Céline Poirsier"
    },
    {
      "affiliations": [
        "Pôle Femme Parents Enfants, CHU Reims, Reims, France, Reims, France",
        "CReSTIC/EA 3804, URCA, Reims, France, reims, France"
      ],
      "name": "Nathalie Bednarek"
    },
    {
      "affiliations": [
        "Service de Génétique, CRMR AnDDI-Rares, CHU de Reims, Reims, France",
        "Inserm UMR-S 1250, Reims, Grand Est, France"
      ],
      "name": "Christine Clavel"
    },
    {
      "affiliations": [
        "Service de Génétique Médicale, CHU de Nantes, Nantes, France",
        "Institut du Thorax, Université de Nantes, Nantes, Pays de la Loire, France"
      ],
      "name": "Benjamin Cogné"
    },
    {
      "affiliations": [
        "Department of Medical Genetics, The University of British Columbia, Vancouver, British Columbia, Canada"
      ],
      "name": "Jan M Friedman"
    },
    {
      "affiliations": [
        "The University of British Columbia, Vancouver, British Columbia, Canada"
      ],
      "name": "Sila Rogan"
    },
    {
      "affiliations": [
        "IHU Necker Enfants Malades - IMAGINE, Paris, France"
      ],
      "name": "Marlène Rio"
    },
    {
      "affiliations": [
        "Service de Génétique, CRMR AnDDI-Rares, CHU de Reims, Reims, France"
      ],
      "name": "Laurence Lodé"
    },
    {
      "affiliations": [
        "Service de Génétique, CRMR AnDDI-Rares, CHU de Reims, Reims, France",
        "Service de Génétique Médicale, CHU de Toulouse, Toulouse, France"
      ],
      "name": "Alban Ziegler"
    }
  ],
  "title": "Commentary on UBTF haploinsufficiency associated with UBTF-related global developmental delay and distinctive facial features without neuroregression",
  "uid": "77014853-4438-5d59-93f2-4208e5d1cb7a"
}