With the advent of next-generation sequencing (NGS), a blended phenotype has been shown to be caused by multilocus molecular diagnosis. Here, we present siblings of neurofibromatosis type 1 (NF1) with discordant phenotypes. Further genetic investigation revealed that the younger sister had trisomy 8 mosaicism with a low ratio and a known pathogenic mutation in the CASK gene. This is the first report of a blended phenotype caused by NF1, CASK disorder, and trisomy 8 mosaicism.

中文翻译：

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NF1兄弟姐妹中CASK突变引起的不一致表型。

随着下一代测序（NGS）的出现，已证明混合表型是由多位点分子诊断引起的。在这里，我们介绍了神经纤维瘤病1型（NF1）与不一致的表型的兄弟姐妹。进一步的基因研究表明，该妹妹的三体性8号嵌合体比例低，并且CASK基因中已知有致病性突变。这是由NF1，CASK疾病和8体三体性镶嵌症引起的混合表型的首次报道。