PDF(Pubmed)
Abstract：
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.
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.
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.
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.
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.
摘要：
背景：先天性胫骨半位症（CTH[MIM：275220]）是一种罕见的先天性肢体缺陷，表现为缩短，弯曲的,发育不良或无胫骨具多指。在以往的研究中,鉴定了远处的声波刺猬（SHH）顺式调节因子（ZRS）和Shh阻遏物（GLI3）的突变。
方法：这里，我们接受了一个20个月大的男孩，他表现为右胫骨畸形，内翻脚,踝关节脱位,同侧前轴多指。经过基因测序和数据分析，结果显示，父亲在7q32.1处的Smoothed（SMO）基因外显子2中的443A>G突变和母亲在536C>T突变，在先证者/患者中两种突变等位基因共存。
结论：我们的报告表明，即使以前没有报道，SMO突变可能与肢体异常有关，例如人类通过Hh信号传导的胫骨半球症，并对遗传咨询产生影响。
方法：这里，我们接受了一个20个月大的男孩，他表现为右胫骨畸形，内翻脚,踝关节脱位,同侧前轴多指。经过基因测序和数据分析，结果显示，父亲在7q32.1处的Smoothed（SMO）基因外显子2中的443A>G突变和母亲在536C>T突变，在先证者/患者中两种突变等位基因共存。
结论：我们的报告表明，即使以前没有报道，SMO突变可能与肢体异常有关，例如人类通过Hh信号传导的胫骨半球症，并对遗传咨询产生影响。
