Genotype-Phenotype Correlation of Distal 2q37 Deletions

Brachydactyly mental retardation syndrome (BDMR) typically results from large deletions (#x3e;2 –9 Mb) in distal 2q37. Haploinsufficiency ofHDAC4 with incomplete penetrance has been proposed as the primary genetic cause of BDMR. To date, pure 2q37 deletions distal toHDAC4 were reported only in a limited number of individuals who share a subset of the clinical manifestations seen in cases with 2q37 deletions encompassingHDAC4. Here, we present a 4-year-old African American male who carries the smallest established 2q37.3 deletion distal toHDAC4 (827.1 kb; 16 OMIM genes). His clinical features that overlap with BDMR phenotypes include expressive-receptive language delay, behavioral issues, mild facial dysmorphism such as frontal bossing, and bilateral 5th finger brachydactyly and clinodactyly. The deletion was inherited from his mother with a history of learning difficulties and similar facial dysmorphism. This case provides important genotype-phenotype correlation information and suggests a 2q37 region distal toHDAC4 encompassing theHDLBP gene may contribute to a subset of clinical features overlapping with those seen in individuals with BDMR.Cytogenet Genome Res
Source: Cytogenetic and Genome Research - Category: Genetics & Stem Cells Source Type: research