October 13, 2025

Pontocerebellar hypoplasia type 2D caused by compound heterozygous variants in the SEPSECS gene: A case report and literature review.

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Case report highlights pathogenic variants in SEPSECS gene, suggesting significant genotype-phenotype correlations in PCH2D.

The patient's genomic analysis revealed compound heterozygous variants in the sepsecs gene, causing pontocerebellar hypoplasia type 2D.
Whole-exome sequencing identified two variants: c.194A>G classified as pathogenic and c.896_c.897insA as likely pathogenic.
Clinical features included cognitive delays and imaging abnormalities, emphasizing the importance of genetic diagnosis in PCH2D.
Literature review of 18 studies showed 32 total patients, expanding knowledge on genotype-phenotype correlations linked to the sepsecs gene.

Xuan et al. (2025) studied this question.

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