Novel compound heterozygous variants in the CSPP1 gene causes Joubert syndrome: case report and literature review of the CSPP1 gene’s pathogenic mechanism
oleh: Caichuan Wei, Haiju Zhang, Miaoying Fu, Jingping Ye, Baozhen Yao
| Format: | Article |
|---|---|
| Diterbitkan: | Frontiers Media S.A. 2024-03-01 |
Deskripsi
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.