A genotype-phenotype correlation study reveals a non-coding RNA might be associated with cardiovascular anomalies in WHS fetuses

Abstract

Wolf-Hirschhorn syndrome (OMIM#194190) is a rare genetic disease caused by a partial deletion from the short arm of chromosome 4. It consists of a broad range of clinical manifestations, including a characteristic craniofacial appearance, growth retardation, intellectual disability, seizures, and structural abnormalities, etc. ^1,2 The deletion size also varies greatly and is reported to range from 67 kb to 37 Mb. ^3,4 Two WHS critical regions (WHSCR and WHSCR-2) have been postulated by researchers, containing candidate genes such as WHSC1, WHSC2 and LETM1. ^5,6,7 However, WHS critical regions are insufficient to elucidate the complex clinical presentations. Although many genotype-phenotype correlation studies have been performed, few clear-cut clinical-genetic correlations could be easily established due to the complexity of WHS etiology. Here we present two fetuses with WHS to provide further insight into the pathogenesis of WHS, both with similar deletions but with different clinical manifestations.

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