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Abstract：
Cases of 2q23q24 microdeletion syndrome are rare. Patients with chromosomal deletions in this region often show language impairment and/or developmental delay of variable severity. Previous genotype-phenotype correlation study suggested GALNT13 and KCNJ3 as possible candidate genes for such phenotypes. We identified a new overlapping deletion in a patient with severe developmental delay. The identified deletion extended toward the distal 2q24.1 region, and more severe phenotypes in the present patient were considered to be related to the additionally deleted genes including NR4A2 and GPD2. Previously reported chromosomal translocation and the mutation identified in GPD2 suggested that this gene would be responsible for the developmental delay. Re-evaluation for the critical region for behavior abnormalities commonly observed in the patients with overlapping deletions of this region suggested that KCNJ3 rather than GALNT13 may be responsible for abnormal behaviors, although there was phenotypic variability. Combinatory deletions involving KCNJ3 and GPD2 may lead to more severe developmental delay. Further studies would be necessary to establish clearer genotype-phenotype correlation in patients with 2q23q24 microdeletion syndrome.
摘要：
2q23q24微缺失综合征的病例很少见。该区域染色体缺失的患者通常表现出语言障碍和/或严重程度可变的发育延迟。先前的基因型-表型相关性研究表明GALNT13和KCNJ3可能是此类表型的候选基因。我们在患有严重发育迟缓的患者中发现了新的重叠缺失。识别出的缺失向远端2q24.1区域延伸，本患者中更严重的表型被认为与包括NR4A2和GPD2在内的额外缺失基因有关。先前报道的染色体易位和GPD2中鉴定的突变表明该基因将负责发育延迟。对该区域重叠缺失的患者中常见的行为异常的关键区域的重新评估表明，KCNJ3而不是GALNT13可能是异常行为的原因。尽管存在表型变异性。涉及KCNJ3和GPD2的组合缺失可能导致更严重的发育延迟。需要进一步的研究来建立2q23q24微缺失综合征患者更清晰的基因型-表型相关性。
