Intellectual disability (ID) is characterized by limited or insufficient development of mental abilities, including intellectual functioning impairments, such as learning and understanding cause-effect relationships. Some cases have ID as the only finding and are called isolated cases. Conversely, cases accompanied by facial dysmorphism, microcephaly, autism spectrum disorder, epilepsy, obesity, and congenital anomalies are called syndromic developmental delay (DD)/ID. Isolated and syndromic DD/ID cases show extreme genetic heterogeneity. Genetic etiology can be detected in approximately 40% of the cases, whereas chromosomal abnormalities are observed in 25%. Obesity is a multifactorial disease in which both genetic and environmental factors play important roles. The role of heredity in obesity has been reported to be between 40 and 70%. Array-based comparative genomic hybridization (array-CGH) can detect CNVs in the whole genome at a higher resolution than conventional cytogenetic methods. Array-CGH is currently recommended as the first-tier genetic test for ID cases worldwide. In the present study, we aimed to evaluate clinical, radiological, and genetic analyses of a 12-year and 4-month-old girl with microcephaly, ID, and obesity. In the array-CGH analysis, a 3.1-Mb deletion, arr[GRGh37] 10q23.31g23.33 (92745793_95937944)×1 was detected, and this alteration was evaluated to be pathogenic. We consider that haploinsufficiency of the candidate genes (GPR120, KIF11, EXOC6, CYP26A1, CYP26C1, and LGI1) in the deletion region may explain microcephaly, ID, obesity, seizures, and ophthalmological findings in our patient. The investigation of 10q23.31q23.33 microdeletion in cases with syndromic obesity may contribute to molecular genetic diagnosis.
Mol Syndromol

中文翻译：

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从头 10q23.31q23.33 微缺失的第一份报告：肥胖、智力障碍和小头畸形

智力障碍 (ID) 的特征是智力发育受限或不足，包括智力功能障碍，例如学习和理解因果关系。一些案例将 ID 作为唯一的发现，被称为孤立案例。相反，伴有面部畸形、小头畸形、自闭症谱系障碍、癫痫、肥胖和先天性异常的病例称为综合征性发育迟缓（DD）/ID。孤立的和综合征性 DD/ID 病例显示出极端的遗传异质性。在大约 40% 的病例中可以检测到遗传病因，而在 25% 的病例中观察到染色体异常。肥胖是一种多因素疾病，其中遗传和环境因素都起着重要作用。据报道，遗传在肥胖中的作用在 40% 到 70% 之间。基于阵列的比较基因组杂交 (array-CGH) 可以以比传统细胞遗传学方法更高的分辨率检测整个基因组中的 CNV。Array-CGH 目前被推荐为全球 ID 病例的一级基因检测。在本研究中，我们旨在评估一名 12 岁 4 个月大的小头畸形、ID 和肥胖女孩的临床、放射学和遗传分析。在阵列-CGH 分析中，检测到 3.1 Mb 缺失 arr[GRGh37] 10q23.31g23.33 (92745793_95937944)×1，该改变被评估为致病性。我们认为候选基因的单倍不足（Array-CGH 目前被推荐为全球 ID 病例的一级基因检测。在本研究中，我们旨在评估一名 12 岁 4 个月大的小头畸形、ID 和肥胖女孩的临床、放射学和遗传分析。在阵列-CGH 分析中，检测到 3.1 Mb 缺失 arr[GRGh37] 10q23.31g23.33 (92745793_95937944)×1，该改变被评估为致病性。我们认为候选基因的单倍不足（Array-CGH 目前被推荐为全球 ID 病例的一级基因检测。在本研究中，我们旨在评估一名 12 岁 4 个月大的小头畸形、ID 和肥胖女孩的临床、放射学和遗传分析。在阵列-CGH 分析中，检测到 3.1 Mb 缺失 arr[GRGh37] 10q23.31g23.33 (92745793_95937944)×1，该改变被评估为致病性。我们认为候选基因的单倍不足（缺失区域中的GPR120、KIF11、EXOC6、CYP26A1、CYP26C1和LGI1 ) 可以解释我们患者的小头畸形、ID、肥胖、癫痫和眼科发现。对综合征性肥胖病例中 10q23.31q23.33 微缺失的研究可能有助于分子遗传学诊断。
摩尔综合征