Lin Chuyang, Jiang Mingyan, Pan Zhen, Wu Jinlin, Li Jinrong
Department of Pediatrics, West China Second University Hospital, Sichuan University, Chengdu, China.
Key Laboratory of Birth Defects and Related Diseases of Women and Children, Ministry of Education, Sichuan University, Chengdu, China.
Transl Pediatr. 2025 Apr 30;14(4):754-762. doi: 10.21037/tp-2024-546. Epub 2025 Apr 27.
Chromosomal microdeletions in the 3q26-3q28 region are rare and often associated with fetal growth restriction (FGR), microcephaly, and dysmorphic features. However, the precise genetic mechanisms and phenotypic spectrum remain incompletely understood. This study reports a novel 3q27.1-3q27.2 microdeletion and refines the critical region for this syndrome.
Here we report a 10-month-old girl with FGR and postnatal growth retardation. Molecular cytogenetic investigation [chromosomal single nucleotide polymorphism (SNP) microarray analysis] identified a interstitial 1.56 Mb microdeletion of 3q27.1-3q27.2. The clinical and molecular findings in this patient were compared with the previous literature on cases with overlapping interstitial 3q-deletions. We identified the smallest region of overlap (SRO) carried on chromosome 3q27.1 as the critical region associated with this microdeletion syndrome, where dishevelled segment polarity protein 3 () and adaptor related protein complex 2 subunit Mu 1 () may be associated with FGR.
This study identifies and as likely contributors to FGR in 3q27.1-3q27.2 microdeletion syndrome and expands the phenotypic spectrum to include hepatic involvement. The findings underscore the importance of early genetic testing in FGR cases and provide insights for future research on genotype-phenotype correlations. Functional studies are needed to validate the roles of these genes in growth and development.
3q26 - 3q28区域的染色体微缺失较为罕见，常与胎儿生长受限（FGR）、小头畸形及畸形特征相关。然而，其确切的遗传机制和表型谱仍未完全明确。本研究报告了一种新的3q27.1 - 3q27.2微缺失，并细化了该综合征的关键区域。
我们在此报告一名10个月大患有FGR及出生后生长迟缓的女孩。分子细胞遗传学研究[染色体单核苷酸多态性（SNP）微阵列分析]确定了3q27.1 - 3q27.2区域存在1.56 Mb的间质性微缺失。将该患者的临床和分子学发现与先前关于重叠性3q间质性缺失病例的文献进行了比较。我们确定位于染色体3q27.1上的最小重叠区域（SRO）为与该微缺失综合征相关的关键区域，其中无序节段极性蛋白3（）和衔接蛋白相关蛋白复合物2亚基μ1（）可能与FGR有关。
本研究确定了和可能是3q27.1 - 3q27.2微缺失综合征中FGR的致病因素，并将表型谱扩展至包括肝脏受累。这些发现强调了FGR病例早期基因检测的重要性，并为未来基因型 - 表型相关性研究提供了见解。需要进行功能研究以验证这些基因在生长发育中的作用。
