14. Deletions resulting in Brachydactyly Mental Retardation Syndrome (BDMR): Multiple contributing regions in distal 2q37

Abstract

Brachydactyly mental retardation syndrome (BDMR), due to distal 2q37 deletions, is characterized by a variable phenotype that most often includes DD/ID, autism, behavioral issues, brachydactyly type E, obesity, microcephaly and other dysmorphic craniofacial features. Affected individuals typically have large deletions (>2 to 9 Mb) that include the HDAC4 gene. Haploinsufficiency of HDAC4 is proposed as the primary genetic cause of BDMR-associated phenotypes, with potential incomplete penetrance (Williams et al., 2010; Le et al., 2019; Wheeler et al., 2014).