ArticleFrontiers in genetics2025
Case Report: Compound heterozygous
Article in Frontiers in genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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11 authors.
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Abstract
Background: Primary autosomal recessive microcephaly and Seckel syndrome spectrum (MCPH-SCKS) disorders are a group of autosomal recessive conditions characterized by severe growth retardation and neurodevelopmental impairment. Methods: Clinical and genetic analyses were performed for two consecutive pregnancies of a non-consanguineous Chinese couple. Fetal phenotypes were evaluated by ultrasound and fetal MRI sequentially; copy number variation sequencing (CNV-seq) was used to detect large genomic variants, whole-exome sequencing (WES) to screen for point variants, and minigene splicing assays to characterize the functional impact of key variants. Results: Fetuses in both pregnancies were diagnosed with MCPH-SCKS and harbored identical compound heterozygous CEP152 variants: a paternally inherited splice-site variant c.3346-5T>C and a maternally inherited 129.6 kb chromosomal deletion localized to 15q21.1, encompassing the entire Conclusion: This study represents the first report of identical compound heterozygous
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