Chromosome 15q24 microdeletion syndrome is characterized by developmental delay, facial dysmorphism, hearing loss, hypotonia, recurrent infection, and other congenital malformations including microcephaly, scoliosis, joint laxity, digital anomalies, as well as sometimes having autism spectrum disorder (ASD) and attention deficit hyperactivity disorder. Here, we report a boy with a 2.58-Mb de novo deletion at chromosome 15q24. He is diagnosed with ASD and having multiple phenotypes similar to those reported in cases having 15q24 microdeletion syndrome. To delineate the critical genes and region that might be responsible for these phenotypes, we reviewed all previously published cases. We observe a potential minimum critical region of 650 kb (LCR15q24A-B) affecting NEO1 among other genes that might pertinent to individuals with ASD carrying this deletion. In contrast, a previously defined minimum critical region downstream of the 650-kb interval (LCR15q24B-D) is more likely associated with the developmental delay, facial dysmorphism, recurrent infection, and other congenital malformations. As a result, the ASD phenotype in this individual is potentially attributed by genes particularly NEO1 within the newly proposed critical region.

中文翻译：

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完善与自闭症有关的15q24微缺失综合征的关键区域。

15q24染色体微缺失综合征的特征在于发育延迟，面部畸形，听力下降，肌张力低下，反复感染以及其他先天性畸形，包括小头畸形，脊柱侧弯，关节松弛，数字异常，有时还患有自闭症谱系障碍（ASD）和注意力缺陷多动症。在这里，我们报道一个男孩在15q24染色体处有2.58-Mb从头缺失。他被诊断出患有ASD，并具有多种表型，类似于15q24微缺失综合症病例中报告的表型。为了描述可能造成这些表型的关键基因和区域，我们回顾了所有先前发表的病例。我们观察到可能会影响NEO1的650 kb（LCR15q24A-B）潜在最小临界区，而其他基因可能与携带这种缺失的ASD个体有关。相反，先前在650-kb区间下游定义的最小关键区域（LCR15q24B-D）更可能与发育延迟，面部畸形，反复感染和其他先天畸形相关。结果，该个体中的ASD表型可能由新提出的关键区域内的基因特别是NEO1引起。