ArticleHuman genetics2025
Non-recurrent duplications on chromosome 4p16.1 involving cis-regulatory elements affecting neural crest development in patients with isolated bilateral microtia.
Article in Human 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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Abstract
Microtia-anotia is a common congenital anomaly. In most cases, the genetic etiology remains unknown. The proper development of outer ear is closely related to cranial neural crest cells. Abnormal DNA recombination perturbing the function of long-range enhancers can lead to genomic disorder. Previously, we identified 4p16.1 duplications in microtia patients and revealed the enhancer function of an evolutionarily conserved region (ECR). Here we recruited additional patients and attempted to identify the minimal overlapping region and regulatory elements. We identified five individuals (F6-F10 probands) with 4p16.1 duplication. The duplications in F3 and F5 were refined to 192.6 kb and 96.1 kb. Precise junction breakpoints in F4 and F6-F10 were detected. The minimal overlapping region (chr4: 8,689,510-8712,827, hg19) contained conserved sequences in addition to ECR. Dual-luciferase assays detected enhancer activity in the TFAP2C binding and 1794 sequence. We present five additional cases of concha-type microtia with 4p16.1 duplication. The minimal overlapping region contains regulatory elements that function as in-cis tissue-specific modules, regulating downstream gene expression during development of cranial neural crest cell.
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