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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… Click to show full abstract
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.
Keywords:
phenotype caused;
nf1 discordant;
discordant phenotype;
caused cask;
mutation
Journal Title: Human Genome Variation
Year Published: 2019
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Journal Title: Human Genome Variation
Year Published: 2019
Link to full text (if available)
Share on Social Media: Sign Up to like & get
recommendations!