Novel compound heterozygous variants in the CSPP1 gene causes Joubert syndrome: case report and literature review of the CSPP1 gene’s pathogenic mechanism
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 r...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2024-03-01
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| Series: | Frontiers in Pediatrics |
| Subjects: | |
| Online Access: | https://www.frontiersin.org/articles/10.3389/fped.2024.1305754/full |
| _version_ | 1827311965445292032 |
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| author | Caichuan Wei Haiju Zhang Miaoying Fu Jingping Ye Baozhen Yao |
| author_facet | Caichuan Wei Haiju Zhang Miaoying Fu Jingping Ye Baozhen Yao |
| author_sort | Caichuan Wei |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-04-24T20:28:37Z |
| format | Article |
| id | doaj.art-fca2e8755f9b4b1f8069a451a5ba6318 |
| institution | Directory Open Access Journal |
| issn | 2296-2360 |
| language | English |
| last_indexed | 2024-04-24T20:28:37Z |
| publishDate | 2024-03-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Pediatrics |
| spelling | doaj.art-fca2e8755f9b4b1f8069a451a5ba63182024-03-22T04:51:43ZengFrontiers Media S.A.Frontiers in Pediatrics2296-23602024-03-011210.3389/fped.2024.13057541305754Novel compound heterozygous variants in the CSPP1 gene causes Joubert syndrome: case report and literature review of the CSPP1 gene’s pathogenic mechanismCaichuan WeiHaiju ZhangMiaoying FuJingping YeBaozhen YaoJoubert 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.https://www.frontiersin.org/articles/10.3389/fped.2024.1305754/fullCSPP1Joubert syndromepathogenic mechanismdevelopmental delaymicrocephaly |
| spellingShingle | Caichuan Wei Haiju Zhang Miaoying Fu Jingping Ye Baozhen Yao Novel compound heterozygous variants in the CSPP1 gene causes Joubert syndrome: case report and literature review of the CSPP1 gene’s pathogenic mechanism Frontiers in Pediatrics CSPP1 Joubert syndrome pathogenic mechanism developmental delay microcephaly |
| title | Novel compound heterozygous variants in the CSPP1 gene causes Joubert syndrome: case report and literature review of the CSPP1 gene’s pathogenic mechanism |
| title_full | Novel compound heterozygous variants in the CSPP1 gene causes Joubert syndrome: case report and literature review of the CSPP1 gene’s pathogenic mechanism |
| title_fullStr | Novel compound heterozygous variants in the CSPP1 gene causes Joubert syndrome: case report and literature review of the CSPP1 gene’s pathogenic mechanism |
| title_full_unstemmed | Novel compound heterozygous variants in the CSPP1 gene causes Joubert syndrome: case report and literature review of the CSPP1 gene’s pathogenic mechanism |
| title_short | Novel compound heterozygous variants in the CSPP1 gene causes Joubert syndrome: case report and literature review of the CSPP1 gene’s pathogenic mechanism |
| title_sort | novel compound heterozygous variants in the cspp1 gene causes joubert syndrome case report and literature review of the cspp1 gene s pathogenic mechanism |
| topic | CSPP1 Joubert syndrome pathogenic mechanism developmental delay microcephaly |
| url | https://www.frontiersin.org/articles/10.3389/fped.2024.1305754/full |
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