Brachydactyly mental retardation syndrome (BDMR) typically results from large deletions (#x3e;2–9 Mb) in distal 2q37. Haploinsufficiency of HDAC4 with incomplete penetrance has been proposed as the primary genetic cause of BDMR. To date, pure 2q37 deletions distal to HDAC4 were reported only in a limited number of individuals who share a subset of the clinical manifestations seen in cases with 2q37 deletions encompassing HDAC4. Here, we present a 4-year-old African American male who carries the smallest established 2q37.3 deletion distal to HDAC4 (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 to HDAC4 encompassing the HDLBP gene may contribute to a subset of clinical features overlapping with those seen in individuals with BDMR.
Cytogenet Genome Res

中文翻译：

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远端 2q37 缺失的基因型-表型相关性

短指精神发育迟滞综合征 (BDMR) 通常由远端 2q37 中的大缺失 (#x3e;2–9 Mb) 引起。具有不完全外显率的HDAC4单倍体不足被认为是 BDMR 的主要遗传原因。迄今为止，仅在有限数量的个体中报告了HDAC4远端的纯 2q37 缺失，这些个体与包含HDAC4的 2q37 缺失病例具有相同的临床表现。在这里，我们展示了一名 4 岁的非洲裔美国男性，他携带HDAC4远端最小的已确定 2q37.3 缺失（827.1 kb；16 个 OMIM 基因）。他与 BDMR 表型重叠的临床特征包括表达-接受语言延迟、行为问题、轻度面部畸形（如前额隆起）以及双侧第 5 指短指和斜指。该缺失遗传自他的母亲，她有学习困难和类似面部畸形的病史。该病例提供了重要的基因型-表型相关信息，并表明包含HDLBP基因的HDAC4远端的 2q37 区域可能导致部分临床特征与 BDMR 患者的临床特征重叠。细胞遗传学研究