[Clinical and genetic analysis of three children with Legius syndrome due to variants of SPRED1 gene].

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  • Author(s): Wang X;Wang X; Zhang Y; Du M; Yang H; Liu X; Wang M; Chen J; Chen Y; Wei H
  • Source:
    Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics [Zhonghua Yi Xue Yi Chuan Xue Za Zhi] 2024 Aug 10; Vol. 41 (8), pp. 941-946.
  • Publication Type:
    Journal Article; Case Reports; English Abstract
  • Language:
    Chinese
  • Additional Information
    • Source:
      Publisher: Sichuan University Country of Publication: China NLM ID: 9425197 Publication Model: Print Cited Medium: Print ISSN: 1003-9406 (Print) Linking ISSN: 10039406 NLM ISO Abbreviation: Zhonghua Yi Xue Yi Chuan Xue Za Zhi Subsets: MEDLINE
    • Publication Information:
      Publication: <2004->: Chengdu, Sichuan, P.R. China : Sichuan University
      Original Publication: Chengdu : Hua xi yi ke da xue,
    • Subject Terms:
      Adaptor Proteins, Signal Transducing*/genetics ; Intracellular Signaling Peptides and Proteins*/genetics; Humans ; Male ; Female ; Child ; Child, Preschool ; Adolescent ; Mutation ; Exome Sequencing ; Genetic Testing ; Cafe-au-Lait Spots/genetics ; Puberty, Precocious/genetics
    • Abstract:
      Objective: To explore the clinical and genetic characteristics of three children with Leguis syndrome.
      Methods: Three children suspected as Legius syndrome at the Henan Children's Hospital for precocious puberty or short stature from June 6, 2019 to August 25, 2022 were selected as the study subjects. Clinical data of the children were collected. All children were subjected to whole exome sequencing, and candidate variants were verified by Sanger sequencing.
      Results: All of the children (including 2 females and 1 male, and aged 4 years and 6 months, 8 years, and 14 years and 8 months, respectively) had typical café de lait spots. Child 1 also had precocious puberty, and children 2 and 3 had short statures. Genetic testing revealed that all of them had harbored heterozygous variants of the SPRED1 gene, including c.751C>T (p.Arg251Ter194) in child 1, c.229A>T (p.Lys77Ter368) in child 2, and c.1044_1046delinsC (p.R349fs*11) in child 3. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the c.751C>T (p.Arg251Ter194) variant was predicted to be likely pathogenic, whilst the other two were known pathogenic variants.
      Conclusion: All of the three children were diagnosed with Leguis syndrome due to variants of the SPRED1 gene, which had manifested as multiple café de lait spots in conjunct with precocious puberty or short statures.
    • Accession Number:
      0 (SPRED1 protein, human)
      0 (Adaptor Proteins, Signal Transducing)
      0 (Intracellular Signaling Peptides and Proteins)
    • Subject Terms:
      Legius syndrome
    • Publication Date:
      Date Created: 20240803 Date Completed: 20240803 Latest Revision: 20240816
    • Publication Date:
      20240816
    • Accession Number:
      10.3760/cma.j.cn511374-20230620-00377
    • Accession Number:
      39097276