{Reference Type}: Journal Article
{Title}: A Cockayne-Syndrome-Like Phenotype with a Homozygous Truncating UVSSA Variant: Might This Be a New Cause?
{Author}: Bahap Y;Kayhan G;
{Journal}: Mol Syndromol
{Volume}: 15
{Issue}: 4
{Year}: 2024 Aug
{Factor}: 1.494
{DOI}: 10.1159/000536420
{Abstract}: <B>UNASSIGNED: </B>UV-sensitive syndrome and Cockayne syndrome (CS) are rare autosomal recessive and transcription-coupled nucleotide excision repair disorders with different clinical manifestations, although some types are allelic.<BR><B>UNASSIGNED: </B>We report on a patient who passed away at 15 years old with a progeroid-like appearance, cachexia, hearing loss, and dental anomalies, which led us to the diagnosis of Cockayne-like progeroid syndromes. Our clinical exome sequencing including all the known genes of progeroid syndromes revealed a homozygous stop-gain variant in the UVSSA gene.<BR><B>UNASSIGNED: </B>Although truncating variants in the UVSSA are known to cause UVsS3, their association with CS has not yet been defined. This case might be the first report of a CS-like phenotype caused by a defective UVSSA.