November 11, 2025Frontiers in GeneticsOpen Access

Case Report: Compound heterozygous CEP152 c.3346-5T>C variant and chr15 deletion causing recurrent MCPH–SCKS in a Chinese pregnant woman across two consecutive pregnancies

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Discussion

Case report shows pathogenicity of compound heterozygous CEP152 variants in two pregnancies, suggesting need for genetic testing for MCPH–SCKS.

To investigate the pathogenicity of compound heterozygous CEP152 variants in two pregnancies and their clinical recurrence.
Clinical and genetic analyses for two pregnancies were performed.
Ultrasound and fetal MRI were used to evaluate fetal phenotypes sequentially.
Copy number variation sequencing (CNV-seq) detected large genomic variants.
Whole-exome sequencing (WES) screened for point variants.
Minigene splicing assays assessed the functional impact of key variants.
Both fetuses were diagnosed with MCPH–SCKS and had identical compound heterozygous CEP152 variants.
These included a splice-site variant and a chromosomal deletion on 15q21.1.
Minigene assays confirmed that the splice-site variant caused aberrant splicing, clarifying its pathogenicity.
The second pregnancy independently verified the pathogenicity of the variant combination and the recurrence risk of 25%.

Zhang et al. (2025) studied this question.

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Case report shows pathogenicity of compound heterozygous CEP152 variants in two pregnancies, suggesting need for genetic testing for MCPH–SCKS.