Whole-genome resequencing with multidimensional annotation revealed pathogenic networks in sirenomelia.

doi:10.1186/s13052-026-02307-5

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Article

Whole-genome resequencing with multidimensional annotation revealed pathogenic networks in sirenomelia.

Italian journal of pediatrics - 14 Aug 2026

Zhu Zefeng, Hao Wanting, Wan Ziyu, Ma Tianhao, Xu Yao, Wang Yu, Gu Wei

Abstract excerpt

BACKGROUND: Sirenomelia is a rare and lethal congenital malformation representing the most severe form of caudal dysgenesis, with a stillbirth rate of up to 53%. The genetic basis of sirenomelia remains poorly understood. Consequently, in this study, we aimed to comprehensively characterize genomic variants and explore potential pathogenic mechanisms in sirenomelia. METHODS: Whole-genome resequencing was...

Topics

Humans
Whole Genome Sequencing
Ectromelia
Polymorphism, Single Nucleotide
Infant, Newborn
Female

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Open in PubMed Open full text

Identifiers

PMID: 42601645
DOI: 10.1186/s13052-026-02307-5
PMCID: PMC13476924

Genes

BMP5
BMP6
RARB
TWSG1

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