When a deaf Czech girl had her genes tested, researchers were surprised to find two sets of her father's genome spliced, leaving almost none of her mother's genome. Only about 25 girls and zero boys have ever been found with this trait.
Many of these girls get rare recessive diseases like tumors, and researchers have identified five paternally imprinted regions that can cause these rare diseases when doubled. Via the case report:
Genome-wide paternal uniparental isodisomy (GWpUPD) is typically characterized by a mosaic blend of paternal uniparental and biparental cell lineages. Uniparental isodisomy can result in human disease as a result of loss of one parent's allele(s) in an imprinted region or unmasking recessive disease-causing mutations. The clinical consequences depend on the mosaic percentages and the location of the uniparental lineage.
They still don't know why she's deaf, though. Researchers were pleased to note she is the first case where clinicians have not detected cancer.
• An 11-Year-Old Got Most Of Her Genes From Her Dad, And Almost None From Her Mom (Buzzfeed Science)
Image: Suvan Chowdhury
