Rubinstein‐Taybi syndrome in Chinese population with four novel mutations,American Journal of Medical Genetics Part A

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Rubinstein‐Taybi syndrome in Chinese population with four novel mutations
American Journal of Medical Genetics Part A ( IF 1.7 ) Pub Date : 2020-10-16 , DOI: 10.1002/ajmg.a.61922
Pui Tak Yu ₁ , Ho-Ming Luk ₁ , Ivan F M Lo ₁

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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.

更新日期：2020-12-17

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