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Rubinstein‐Taybi syndrome in Chinese population with four novel mutations
Author(s) -
Yu Pui Tak,
Luk HoMing,
Lo Ivan F. M.
Publication year - 2021
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.61922
Subject(s) - rubinstein–taybi syndrome , genetics , short stature , palpebral fissure , population , phenotype , biology , chinese population , dermatology , gene , medicine , anatomy , genotype , endocrinology , environmental health
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.