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Rubinstein-Taybi syndrome in Chinese population with four novel mutations.

Pui Tak YuHo-Ming LukIvan F M Lo
Published in: American journal of medical genetics. Part A (2020)
Rubinstein-Taybi syndrome (RSTS, OMIM*180849) is a rare autosomal dominant disorder, characterized by distinctive facial features, short stature, broad and often angulated thumbs and halluces, with occasional congenital anomalies. Characteristic facial dysmorphic features include downslanting palpebral fissures, low hanging columella. RSTS is caused by pathogenic variants in two ubiquitously expressed and highly homologous genes, CREBBP (OMIM*600140) and EP300 (OMIM*600140). Clinical features were well reported especially in Caucasian ethnicity. We would like to report the clinical phenotype of RSTS in our Chinese population and highlight four novel mutations in CREBBP gene.
Keyphrases
  • copy number
  • genome wide
  • case report
  • genome wide identification
  • soft tissue
  • dna damage
  • dna methylation
  • african american
  • genome wide analysis