Frontiers in Pediatrics (Mar 2024)

Novel compound heterozygous variants in the CSPP1 gene causes Joubert syndrome: case report and literature review of the CSPP1 gene’s pathogenic mechanism

  • Caichuan Wei,
  • Haiju Zhang,
  • Miaoying Fu,
  • Jingping Ye,
  • Baozhen Yao

DOI
https://doi.org/10.3389/fped.2024.1305754
Journal volume & issue
Vol. 12

Abstract

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Joubert syndrome (JS) is a rare autosomal recessive neurodevelopmental condition characterized by congenital mid-hindbrain abnormalities and a variety of clinical manifestations. This article describes a case of Joubert syndrome type 21 with microcephaly, seizures, developmental delay and language regression, caused by a CSPP1 gene variant and examines the contributing variables. This paper advances the understanding of JS by summarizing the literature and offering detection patterns for practitioners with clinical suspicions of JS.

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