Fig. 1: Duplication of non-coding region downstream of HMX1 as a pathogenic factor in Bilateral Constricted Ears (BCEs). | Nature Communications

Fig. 1: Duplication of non-coding region downstream of HMX1 as a pathogenic factor in Bilateral Constricted Ears (BCEs).

From: Auricular malformations are driven by copy number variations in a hierarchical enhancer cluster and a dominant enhancer recapitulates human pathogenesis

Fig. 1: Duplication of non-coding region downstream of HMX1 as a pathogenic factor in Bilateral Constricted Ears (BCEs).The alternative text for this image may have been generated using AI.

a Pedigrees of seven families with BCEs. Each individual’s pedigree identity is indicated below their symbol. Black shading indicates affected individuals, while gray shading denotes unknown phenotype. b Representative images of affected ears from the proband patients and their families, in each pedigree. c Copy number duplication in each family, located in the intergenic region downstream of the HMX1 gene, within the same TAD. The top panel displays Hi-C data (25 kb resolution) from human eye tissue25, with the black dotted line marking the TAD boundary. In the middle panel, the CTCF signal (late hCNCCs), a marker frequently observed at TAD boundaries, is depicted across this region. The lower panel specifies the duplication regions for each family, highlighting the minimum overlapping genomic area (chr4: 8691119-8728565, termed BCE core locus).

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