ArticleHuman genomics2025
Whole-genome sequencing identifies HOXD13 variants in syndactyly pedigrees.
Article in Human genomics, 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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Abstract
backgroundSyndactyly demonstrates high genetic heterogeneity, with many cases lacking molecular diagnosis despite known HOXD13 involvement, suggesting conventional methods may miss a sub-class of variants.
resultsIntegrated whole-exome sequencing (WES) and whole-genome sequencing (WGS) analyses identified three novel HOXD13 variants: one 2-bp heterozygous deletion c.314_315del, p.(Lys105ArgfsTer131), and two heterozygous polyalanine expansions (PAE): c.186_212dup, p.(Ala63_Ala71dup) and c.203_204insAGCAGCGGCGGCTGCGGCGGCGGC, p.(Ala64_Ala71dup). WGS successfully identified cryptic variants undetectable by WES technology.
conclusionsOur findings demonstrate the utility of WGS in identifying HOXD13 variants and support the genotype-phenotype correlation of polyalanine expansions in limb malformations, providing new insights for molecular diagnosis.
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