Chen Jun, Bi Shaohua, Wang Juan, Dai Liying
Department of Neonatology, Anhui Provincial Children's Hospital/Children's Hospital of Fudan University (Affiliated Anhui Branch), China.
J Int Med Res. 2025 Jul;53(7):3000605251358613. doi: 10.1177/03000605251358613. Epub 2025 Jul 24.
The human 16p11.2 BP4-BP5 region, composed of low-copy repeats, is prone to mediating recurrent copy number variations that increase the risk of neurodevelopmental disorders. Compared with 16p11.2 deletion variants, duplication variants have lower penetrance and higher phenotypic heterogeneity. Due to limited perinatal data, early phenotypes warrant further investigation. We report the case of a neonate with seizures, microcephaly, and neurodevelopmental delay whose parents were phenotypically normal. Whole-exome sequencing revealed a 200.15-kb duplication in 16p11.2 seq[GRCh38]dup(16)(p11.2-p11.2) (chr16:29,963,728-30,168,686) in the proband and his mother, which was confirmed via quantitative polymerase chain reaction. This case highlights the potential link between 16p11.2 duplications and neonatal neurodevelopmental disorders, emphasizing the need for genetic counseling in affected families.
人类16p11.2 BP4 - BP5区域由低拷贝重复序列组成，易于介导反复出现的拷贝数变异，从而增加神经发育障碍的风险。与16p11.2缺失变异相比，重复变异的外显率较低且表型异质性较高。由于围产期数据有限，早期表型值得进一步研究。我们报告了一例患有癫痫、小头畸形和神经发育迟缓的新生儿病例，其父母表型正常。全外显子测序显示先证者及其母亲的16p11.2 seq[GRCh38]dup(16)(p11.2 - p11.2)（chr16:29,963,728 - 30,168,686）存在200.15 kb的重复，这通过定量聚合酶链反应得到了证实。该病例突出了16p11.2重复与新生儿神经发育障碍之间的潜在联系，强调了对受影响家庭进行遗传咨询的必要性。
