Interstitial microdeletion of 4p16.3: contribution of WHSC1 haploinsufficiency to the pathogenesis of developmental delay in Wolf-Hirschhorn syndrome.

摘要

Recently, an issue of the American Journal of Medical Genetics Part. C was devoted to summarizing the current understanding of Wolf-Hirschhorn syndrome (WHS), a clinically and genetically heterogeneous condition caused by variably sized deletions of chromosome 4p [Battaglia and Carey, 2008; Battaglia et al, 2008; Fisch et al, 2008; Hirschhorn, 2008; Simon and Bergemann, 2008; South et al., 2008; Zollino et al., 2008]. We read this monumental issue with great interest. As demonstrated throughout the review, phenotypic comparisons of cases with well-defined deletion boundaries are extremely valuable for refining the critical genomic region, which contains several genes whose haploinsufficiency would produce the cardinal features of WHS. Here, we wish to present a patient with WHS and a 4p microdeletion in which the centromeric end resides within the WHSC1 gene to elaborate on the significance of the haploinsufficiency of the WHSC1 gene in the pathogenesis of the developmental delays that occur in WHS.