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Recurrent \'outsider\' intronic variation in the SLC5A 6 gene causes severe mixed axonal and demyelinating neuropathy, cyclic vomiting and optic atrophy in 3 families from Maghreb.

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  • معلومة اضافية
    • Contributors:
      Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12); Université Paris Cité (UPCité); Sorbonne Université (SU); CHU Henri Mondor Créteil; CHU Pitié-Salpêtrière AP-HP; Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU); Centre Hospitalier Régional Universitaire CHU Lille (CHRU Lille); Maladies RAres du DEveloppement embryonnaire et du MEtabolisme : du Phénotype au Génotype et à la Fonction - ULR 7364 (RADEME); Université de Lille-Centre Hospitalier Régional Universitaire CHU Lille (CHRU Lille); Hôpital Jeanne de Flandre Lille; CHU Trousseau APHP; Institute for Translational Research in Inflammation - U 1286 (INFINITE); Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lille-Centre Hospitalier Régional Universitaire CHU Lille (CHRU Lille); Hôpital Necker - Enfants Malades AP-HP; Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)
    • بيانات النشر:
      HAL CCSD
      Frontiers Media
    • الموضوع:
      2024
    • Collection:
      LillOA (HAL Lille Open Archive, Université de Lille)
    • نبذة مختصرة :
      International audience ; Sodium dependent multivitamin transporter (SMVT) deficiency is a very rare autosomal recessive disorder characterized by multisystemic clinical manifestations due to combined biotin, panthotenic acid and lipoic acid deficiency. About 10 families have been described so far. Accurate diagnosis is crucial because of the possibility of a supplementation treatment with proven efficacy. Here we describe 4 new patients (3 additional families) originating from the same world region (Algeria, Maghreb). All patients, born form consanguineous parents, were homozygous carriers of the same intronic variation, outside of canonical sites, in the SLC5A6 gene encoding SMVT. RNA study in one family allowed confirming the pathogenic effect of the variation and re-classifying this variant of uncertain significance as pathogenic, opening the possibility of genetic counseling and treatment. The identification of the same variation in three distinct and apparently unrelated families is suggestive of a founder effect. The phenotype of all patients was very similar, with systematic optic atrophy (initially considered as a very rare sign), severe cyclic vomiting, and rapidly progressive mixed axonal and demyelinating sensory motor neuropathy.
    • Relation:
      info:eu-repo/semantics/altIdentifier/pmid/38348452; hal-04674630; https://hal.univ-lille.fr/hal-04674630; https://hal.univ-lille.fr/hal-04674630/document; https://hal.univ-lille.fr/hal-04674630/file/fgene-15-1352006.pdf; PUBMED: 38348452
    • الرقم المعرف:
      10.3389/fgene.2024.1352006
    • الدخول الالكتروني :
      https://hal.univ-lille.fr/hal-04674630
      https://hal.univ-lille.fr/hal-04674630/document
      https://hal.univ-lille.fr/hal-04674630/file/fgene-15-1352006.pdf
      https://doi.org/10.3389/fgene.2024.1352006
    • Rights:
      http://creativecommons.org/licenses/by/ ; info:eu-repo/semantics/OpenAccess
    • الرقم المعرف:
      edsbas.277E9DE5