In this study Dr Meena Balasubramanian present 12 new patients with de novo, heterozygous, loss-of function mutations in ASXL3 and review the to date published literature. Together with the recently published six patients of Kuechler et al. there are now 27 published cases of Bainbridge-Ropers Syndrome (BRS/BRPS).
The patients, identified by the Deciphering Developmental Disorders study (DDD study), help to delineate the phenotypic spectrum of BRS (“severe intellectual disability (12/12), poor/ absent speech (12/12), autistic traits (9/12), distinct face (arched eyebrows, prominent forehead, high-arched palate, hypertelorism and downslanting palpebral fissures), (9/12), hypotonia (12/12) and significant feeding difficulties (12) when young”) and discovers a “second mutation cluster region within ASXL3“. Further the authors conclude a high frequency of Bainbridge-Ropers Syndrome.