PDF(Pubmed)
Abstract：
UNASSIGNED: 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.
UNASSIGNED: 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.
UNASSIGNED: 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.
UNASSIGNED: 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.
UNASSIGNED: 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.
摘要：
■紫外线敏感综合征和Cockayne综合征（CS）是罕见的常染色体隐性遗传和转录偶联核苷酸切除修复障碍，具有不同的临床表现，虽然有些类型是等位基因。
■我们报告了一位15岁时去世的患者，其外观类似于早衰症，恶病质,听力损失,牙齿异常,这导致我们诊断出Cockayne样早衰综合征。我们的临床外显子组测序，包括所有已知的早衰综合征基因，揭示了UVSSA基因中的纯合停止-增益变体。
■尽管已知UVSSA中的截断变体会导致UVsS3，但尚未定义它们与CS的关联。这种情况可能是由缺陷性UVSSA引起的CS样表型的首次报道。
■我们报告了一位15岁时去世的患者，其外观类似于早衰症，恶病质,听力损失,牙齿异常,这导致我们诊断出Cockayne样早衰综合征。我们的临床外显子组测序，包括所有已知的早衰综合征基因，揭示了UVSSA基因中的纯合停止-增益变体。
■尽管已知UVSSA中的截断变体会导致UVsS3，但尚未定义它们与CS的关联。这种情况可能是由缺陷性UVSSA引起的CS样表型的首次报道。
