Cheng Lin, Yang Fan, Chen Xinlin, Kang Jiawei, Li Jiafu, Zhang Yuanzhen, Liu Juan, Li Jin, Ma Jianhong, Duan Jie
Department of Obstetrics and Gynecology, Zhongnan Hospital of Wuhan University, Wuhan, China.
Hubei Clinical Research Center for Prenatal Diagnosis and Birth Health, Wuhan, China.
Front Genet. 2022 Aug 12;13:938457. doi: 10.3389/fgene.2022.938457. eCollection 2022.
Matrix metalloproteinase 9 (MMP9) is an important member of the matrix metalloproteinase family and plays a key role in balancing extracellular matrix proteins. Studies have shown that the homozygous mutations in can lead to metaphyseal anadysplasia type 2 (MANDP2, OMIM#613073). The clinical phenotype of this disease is limited and there were only five reported cases of MANDP2 associated with homozygous mutations from three families. In this study, we described a case of a fetus with skeletal system malformation. The main clinical manifestations include the short bilateral femur, absence of right fibula, and curved ipsilateral tibia with short length. Importantly, two novel compound heterozygous variants of the gene (NM_004,994.3: c.151C > T and c.929del) were found through the trio whole exome sequencing and Sanger sequencing. This is the first report that identified the compound heterozygous variants of the gene associated with metaphyseal dysplasia type 2.
基质金属蛋白酶9（MMP9）是基质金属蛋白酶家族的重要成员，在平衡细胞外基质蛋白方面发挥关键作用。研究表明，[基因名称]中的纯合突变可导致2型干骺端发育异常（MANDP2，OMIM#613073）。该疾病的临床表型有限，仅有来自三个家族的五例与纯合[基因名称]突变相关的MANDP2病例报道。在本研究中，我们描述了一例患有骨骼系统畸形的胎儿。主要临床表现包括双侧股骨短小、右侧腓骨缺如以及同侧胫骨弯曲且长度较短。重要的是，通过三联体全外显子测序和桑格测序发现了[基因名称]基因的两个新的复合杂合变异（NM_004,994.3: c.151C>T和c.929del）。这是首次报道鉴定出与2型干骺端发育异常相关的[基因名称]基因复合杂合变异。
