PDF(Pubmed)
Abstract：
Joubert syndrome (JBTS) is a class of heterogeneous ciliopathy genetically associated with CPLANE1 mutations. The characteristics of clinical phenotypes and CPLANE1 variants were analyzed in a 2-month-old patient. A 2-month-old patient with JBTS was diagnosed after clinical evaluation including family history, physical examination, cerebral MRI, ultrasonography imaging, VEGG, ocular fundus examination, and comprehensive blood and urine testing. Whole exome sequencing (WES) was performed to detect CPLANE1 variants, and Sanger sequencing was used to confirm the variants. This JBTS patient presented with oculomotor apraxia, dysregulation of breathing pattern, and ataxia. MRI revealed poor continuity of cerebelli, batwing appearance, and molar tooth sign. This patient was noted with abnormal hematology, dysregulation of hepatic function, thyroid function, immunity, and renal function, and encephalopathy. CPLANE1 (c.8948dupT (p.P2984Tfs*7) and c.247G > T (p.G83X)) variants were noticed in the patient as a pathogenic variant and caused autosomal recessive inheritance. The JBTS patient with mutations in CPLANE1 (c.8948dupT (p.P2984Tfs*7) and c.247G > T (p.G83X)) developed JBTS phenotypes. The novel CPLANE1 c.8948dupT (p.P2984Tfs*7) variant will assist clinicians and geneticists in reaching a precise diagnosis for JBTS.
摘要：
Joubert综合征（JBTS）是一类与CPLANE1突变遗传相关的异质性纤毛病。在2个月大的患者中分析了临床表型和CPLANE1变异的特征。一名2个月大的JBTS患者经过包括家族史在内的临床评估后被诊断出，体检,脑MRI,超声成像,VEGG,眼底检查,以及全面的血液和尿液检测。进行全外显子组测序（WES）以检测CPLANE1变体，和Sanger测序用于确认变体。这位JBTS患者表现为动眼失用症，呼吸模式失调，和共济失调.核磁共振显示小脑连续性差,蝙蝠翼外观,和臼齿标志。这名患者出现血液学异常,肝功能失调，甲状腺功能,豁免权,肾功能，和脑病。CPLANE1（c.8948dupT（p。P2984Tfs*7）和c.247G>T（p。G83X））变异在患者中被发现为致病性变异，并引起常染色体隐性遗传。具有CPLANE1突变的JBTS患者（c.8948dupT（p。P2984Tfs*7）和c.247G>T（p。G83X））开发了JBTS表型。新颖的CPLANE1c.8948dupT（p。P2984Tfs*7）变体将帮助临床医生和遗传学家对JBTS进行精确诊断。
