Song Chun-Yu, Yang Jing, Jiang Sheng, Du Guo-Li
State Key Laboratory of Pathogenesis, Prevention and Treatment of High Incidence Diseases in Central Asia, Urumqi, China.
Department of Endocrinology, First Affiliated Hospital of Xinjiang Medical University, Urumqi, Xinjiang, China.
Front Genet. 2024 Aug 16;15:1391804. doi: 10.3389/fgene.2024.1391804. eCollection 2024.
17q12 deletion syndrome is a chromosomal abnormality, where there is a small missing piece (deletion) of genetic material on the long arm (q) of chromosome 17. Sign and symptoms can vary widely among different patients. Recently, a patient was diagnosed with 17q12 deletion syndrome in our hospital, and the clinical characteristics presented as absence of the right kidney, compensatory hypertrophy of the left kidney, multiple small cysts in the left kidney, pancreatic atrophy, hypomagnesemia, bowed uterus, multiple follicular cysts in both lobes of the thyroid gland, and maturity-onset diabetes of the young type 5 (MODY-5). A 1.5-Mb deletion with haploinsufficiency for 20 genes within the 17q12 region was found through copy number variation (CNV) analysis based on metagenomic next-generation sequencing (mNGS) technology. In addition to HNF1B absence, the LIM-class homeobox 1 transcription factor (LHX1) and GGNBP2 absence was also involved in regulation of kidney development and the reproductive system through bioinformatics analysis. The inheriting risk of 17q12 deletion syndrome is about 50%, and it is recommended to provide genetic counseling to all patients who are suspected or diagnosed with the syndrome.
17q12缺失综合征是一种染色体异常疾病，在17号染色体长臂（q）上存在一小段缺失的遗传物质。不同患者的体征和症状差异很大。最近，我院诊断出一名患有17q12缺失综合征的患者，其临床特征表现为右肾缺如、左肾代偿性肥大、左肾多发小囊肿、胰腺萎缩、低镁血症、子宫弯曲、甲状腺两叶多发滤泡囊肿以及青年型5型成年发病型糖尿病（MODY-5）。通过基于宏基因组下一代测序（mNGS）技术的拷贝数变异（CNV）分析，发现17q12区域内有一个1.5兆碱基的缺失，导致20个基因单倍剂量不足。通过生物信息学分析，除了肝细胞核因子1β（HNF1B）缺失外，LIM类同源盒1转录因子（LHX1）和GGNBP2缺失也参与了肾脏发育和生殖系统的调控。17q12缺失综合征的遗传风险约为50%，建议对所有疑似或诊断为此综合征的患者提供遗传咨询。
