Apuzzo Diletta, Cappuccio Gerarda, Vaisanen Taneli, Alagia Marianna, Pignataro Piero, Genesio Rita, Brunetti-Pierri Nicola
Department of Translational Medicine, Federico II University, Naples, Italy.
Department of Translational Medicine, Federico II University, Naples, Italy; Telethon Institute of Genetics and Medicine, Pozzuoli, Naples, Italy.
Eur J Med Genet. 2020 Jun;63(6):103878. doi: 10.1016/j.ejmg.2020.103878. Epub 2020 Feb 8.
Interstitial deletions of 16q chromosome including 16q12.1q21 region are very rare, with only three cases reported to date. Main clinical features include dysmorphisms, short stature, microcephaly, eye abnormalities, epilepsy, development delay, intellectual disability, and autism spectrum disorder. We report two independent subjects with 16q12.1q21 deletion syndrome presenting with dysmorphic facial features, developmental delay, strabismus, and aggressive behavior. A minimal region of overlap spanning 1.7 Mb on chromosome 16, including IRX5, GNAO1, and NUDT21 genes was shared among these two cases and those previously reported. This minimal region of overlap suggests the potential pathogenic role of these genes, previously implicated in diseases of the central nervous system.
包括16q12.1q21区域在内的16号染色体间质性缺失非常罕见，迄今为止仅报道了3例。主要临床特征包括畸形、身材矮小、小头畸形、眼部异常、癫痫、发育迟缓、智力残疾和自闭症谱系障碍。我们报告了两名患有16q12.1q21缺失综合征的独立患者，他们表现出面部畸形、发育迟缓、斜视和攻击性行为。这两例患者以及先前报道的病例共有的最小重叠区域位于16号染色体上，跨度为1.7 Mb，包括IRX5、GNAO1和NUDT21基因。这个最小重叠区域提示了这些基因的潜在致病作用，这些基因先前与中枢神经系统疾病有关。
