Letter from Brisbane [Letters to editor]

    January 2011 in “ Journal of Human Genetics ”
    Kári Gíslason
    TLDR A Japanese patient with a rare genetic disorder had a less severe case than others, suggesting other factors may affect symptoms.
    Ichthyosis follicularis with atrichia and photophobia (IFAP) syndrome was a rare genetic disorder linked to mutations in the MBTPS2 gene. This study identified a severe 1286G > A (Arg429His) mutation in a Japanese patient, previously found in a German family. The Japanese patient, a 5-year-old, exhibited less severe symptoms compared to the German patients, who had died young due to severe anomalies. The study suggested that other factors might influence the syndrome's clinical features, highlighting the need for further research to understand the genotype-phenotype relationship and identify modifying factors.
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