Zhongling Ke, Guoming Li, Yanhui Chen, Xiaoru Chen
Fujian Medical University Union Hospital, Fuzhou, China.
Guankou Hospital of Xiamen Jimei District, Xiamen, China.
Front Genet. 2021 Sep 1;12:738157. doi: 10.3389/fgene.2021.738157. eCollection 2021.
Joubert syndrome (JBTS) is a rare ciliopathy characterized by developmental delay, hypotonia, and distinctive cerebellar and brain stem malformation called the molar tooth sign (MTS). We reported a 15-month-old female with dysmorphic features (flat nasal bridge, almond-shaped eye, and a minor midline notch in the upper lips), hypotonia, polydactyly, development delay, and MTS. Whole exome sequencing revealed biallelic heterozygous mutations c.535C>G(p.Q179E/c.853G>T) (p.E285) in , which were inherited from the parents. So far, only one article reported JBTS associated with gene mutation, and this is the second report of the fifth patient with JBTS due to variants in . All five patients had developmental delay, postaxial polydactyly, subtle cleft of the upper lip, hypotonia, and MTS, but notably without renal and retinal anomalies or significant obesity, and they shared the same mutation c.535C>G(p.Q179E) in , and c.853G>T(p.E285) that we found was a new mutation in that related with Joubert syndrome. Those findings highlight the need for the inclusion of in gene panels for JBST testing.
乔布综合征（JBTS）是一种罕见的纤毛病，其特征为发育迟缓、肌张力减退以及一种称为磨牙症候（MTS）的独特小脑和脑干畸形。我们报告了一名15个月大的女性，她具有畸形特征（鼻梁扁平、杏仁状眼睛以及上唇轻微中线切迹）、肌张力减退、多指畸形、发育迟缓以及磨牙症候。全外显子组测序揭示了双等位基因杂合突变c.535C>G（p.Q179E/c.853G>T）（p.E285），该突变是从父母遗传而来。到目前为止，仅有一篇文章报道了与基因突变相关的乔布综合征，这是因基因变异导致的第五例乔布综合征患者的第二篇报道。所有五例患者均有发育迟缓、轴后多指畸形、上唇细微裂隙、肌张力减退以及磨牙症候，但值得注意地是，他们均无肾脏和视网膜异常或显著肥胖，并且他们在基因中共享相同的突变c.535C>G（p.Q179E），而我们发现的c.853G>T（p.E28）是基因中与乔布综合征相关的一个新突变。这些发现凸显了在用于乔布综合征检测的基因面板中纳入该基因的必要性。
