Gain-Of-Function Variants In The ODC1 Gene Cause A Syndromic Neurodevelopmental Disorder Associated With Macrocephaly, Alopecia, Dysmorphic Features, And Neuroimaging Abnormalities

    November 2018 in “ American Journal of Medical Genetics Part A ”
    Lance H. Rodan, Kwame Anyane‐Yeboa, Karen Chong, Jolien S. Klein Wassink‐Ruiter, Ashley Wilson, Lacey Smith, Sanjeev V. Kothare, Farrah Rajabi, Susan Blasér, Min Ni, Ralph J. DeBerardinis, Annapurna Poduri, Gerard T. Berry
    TLDR ODC1 gene mutations cause a neurodevelopmental disorder with large head size, hair loss, and facial abnormalities.
    Researchers identified a syndromic neurodevelopmental disorder caused by de novo heterozygous gain-of-function variants in the ODC1 gene in four patients. This disorder was characterized by global developmental delay, alopecia, macrocephaly, and distinct facial dysmorphisms. Neuroimaging showed various abnormalities, including white matter changes and corpus callosum irregularities. Elevated levels of N-acetylputrescine were found in plasma, despite normal polyamine levels. Potential treatments could involve ODC1 inhibitors, dietary changes, and antibiotics to reduce polyamine production. Given the ODC1 gene's link to neoplasia, cancer surveillance might be necessary for affected individuals.
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