先天性胫骨假关节中一种新的平滑化（SMO）点突变：病例报告。
A novel smoothed (SMO) point mutation in congenital tibial hemimelia: a case report.
机构信息
Department of Pediatric Surgery, West China Hospital, Sichuan University, #37 Guo-Xue-Xiang, Chengdu, 610041, China.
Laboratory of Pediatric Surgery, West China Hospital, Sichuan University, Chengdu, 610041, China.
出版信息
BMC Pediatr. 2023 Aug 25;23(1):424. doi: 10.1186/s12887-023-04167-y.
BACKGROUND
Congenital tibial hemimelia (CTH [MIM: 275220]) is a rare congenital limb deficiency that manifests as a shortened, curved, dysplastic or absent tibia with polydactyly. In previous studies, mutations of a distant sonic hedgehog (SHH) cis-regulator (ZRS) and a Shh repressor (GLI3) were identified.
CASE PRESENTATION
Here, we admitted a 20-month-old boy who manifested with right tibial deformity, varus foot, ankle dislocation, and ipsilateral preaxial polydactyly. After genetic sequencing and data analysis, the results revealed a 443 A > G mutation in the father and a 536 C > T mutation in the mother in exon 2 of the Smoothed (SMO) gene at 7q32.1, with the coexistence of both mutant alleles in the proband/patient.
CONCLUSIONS
Our report suggests that even though not previously reported, SMO mutations may be associated with limb anomalies such as tibial hemimelia via Hh signaling in humans and has implications for genetic counseling.
背景
先天性胫骨假关节（CTH [MIM: 275220]）是一种罕见的先天性肢体缺失疾病，表现为胫骨短缩、弯曲、发育不良或缺失，并伴有多指畸形。在之前的研究中，已经鉴定出远距离 sonic hedgehog（SHH）顺式调控因子（ZRS）和 Shh 抑制剂（GLI3）的突变。
病例介绍
我们收治了一名 20 个月大的男孩，他表现为右侧胫骨畸形、内翻足、踝关节脱位和同侧近轴多指畸形。经过基因测序和数据分析，结果显示父亲在 7q32.1 外显子 2 的 Smoothed（SMO）基因中存在 443A>G 突变，母亲存在 536C>T 突变，而先证者/患者同时存在这两种突变等位基因。
结论
我们的报告表明，即使之前没有报道过，SMO 突变也可能与人类 Hh 信号通路相关的肢体异常有关，如胫骨假关节，并对遗传咨询具有重要意义。
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