Novel Mutations in CLN5 of Chinese Patients With Neuronal Ceroid Lipofuscinosis.

Item request has been placed! ×
Item request cannot be made. ×
loading   Processing Request
Read More Add to Saved list
  • Additional Information
    • Source:
      Publisher: Sage Country of Publication: United States NLM ID: 8606714 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1708-8283 (Electronic) Linking ISSN: 08830738 NLM ISO Abbreviation: J Child Neurol Subsets: MEDLINE
    • Publication Information:
      Publication: Thousand Oaks, CA : Sage
      Original Publication: Littleton, MA : PSG Pub. Co., c1986-
    • Subject Terms:
      Membrane Proteins/*genetics ; Mutation/*genetics ; Neuronal Ceroid-Lipofuscinoses/*genetics; Age of Onset ; Child ; Child, Preschool ; China ; Europe ; Female ; Genetic Testing ; Humans ; Infant ; Lysosomal Membrane Proteins ; Magnetic Resonance Imaging ; Male ; Neuronal Ceroid-Lipofuscinoses/complications ; Neuronal Ceroid-Lipofuscinoses/diagnostic imaging ; Psychomotor Disorders/etiology ; Sweat Glands/pathology ; Sweat Glands/ultrastructure ; United States ; Vision Disorders/etiology ; Vision Disorders/genetics
    • Abstract:
      Neuronal ceroid lipofuscinosis is a hereditary disease, and ceroid-lipofuscinosis neuronal protein 5 (CLN5) has been proved to be associated with neuronal ceroid lipofuscinosis. Here we report 3 patients from 2 families diagnosed with CLN5 neuronal ceroid lipofuscinosis. Whole genome sequencing of DNAs from 3 patients and their families revealed 3 novel homozygous mutations, including 1 deletion CLN5.c718 719delAT and 2 missense mutations c.1082T>C and c.623G>A. We reviewed 278 papers about neuronal ceroid lipofuscinosis resulting from CLN5 mutations and compared Chinese cases with 27 European and American cases. The overall age of onset of European and American patients occur mainly at 3 to 6 years (66%, 18/27), 100% (27/27) of patients had psychomotor regression, 99% (26/27) patients presented vision decline, and 70% (19/27) of patients suffered seizures. In China, the age of onset in 3 patients was 5 years, but for 1 patient it was at 17 months. Four Chinese patients presented psychomotor deterioration and seizures; only 1 had visual problems.
    • Contributed Indexing:
      Keywords: CLN5; gene mutation; neuronal ceroid lipofuscinosis
    • Accession Number:
      0 (CLN5 protein, human)
      0 (Lysosomal Membrane Proteins)
      0 (Membrane Proteins)
    • Publication Date:
      Date Created: 20180929 Date Completed: 20191004 Latest Revision: 20231213
    • Publication Date:
      20231215
    • Accession Number:
      10.1177/0883073818789024
    • Accession Number:
      30264640