Novel De Novo Pathogenic Variant in the ODC1 Gene in a Girl with Developmental Delay, Alopecia, and Dysmorphic Features
September 2018
in “
American Journal of Medical Genetics Part A
”
A 32-month-old Caucasian female was identified with a heterozygous de novo nonsense mutation in the ODC1 gene, leading to a new pediatric disorder characterized by developmental delay, alopecia, and other symptoms such as macrosomia and macrocephaly. This mutation resulted in elevated ODC protein and polyamine levels in red blood cells. The case confirmed similar symptoms observed in a transgenic ODC1 mouse model. The mutation was identified through whole-exome sequencing and confirmed by Sanger sequencing. The patient might benefit from treatment with α-difluoromethylornithine, an FDA-approved drug.
