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Abstract：
Joubert syndrome (JS, OMIM: 213300) is a recessive developmental disorder characterized by cerebellar vermis hypoplasia and a distinctive mid-hindbrain malformation called the \"molar tooth sign\" on axial magnetic resonance imaging. To date, more than 35 ciliary genes have been identified as the causative genes of JS.
Whole exome sequencing was performed to detect the causative gene mutations in a Chinese patient with JS followed by Sanger sequencing. RT-PCR and Sanger sequencing were used to confirm the abnormal transcript of centrosomal protein 104 (CEP104, OMIM: 616690).
We identified two novel heterozygous mutations of CEP104 in the proband, which were c.2364+1G>A and c.414delC (p.Asn138Lysfs*11) (GenBank: NM_014704.3) and consistent with the autosomal recessive inheritance mode.
Our study reported the fourth case of JS patients with CEP104 mutations, which expands the mutation spectrum of CEP104 and elucidates the clinical heterogeneity of JS.
Whole exome sequencing was performed to detect the causative gene mutations in a Chinese patient with JS followed by Sanger sequencing. RT-PCR and Sanger sequencing were used to confirm the abnormal transcript of centrosomal protein 104 (CEP104, OMIM: 616690).
We identified two novel heterozygous mutations of CEP104 in the proband, which were c.2364+1G>A and c.414delC (p.Asn138Lysfs*11) (GenBank: NM_014704.3) and consistent with the autosomal recessive inheritance mode.
Our study reported the fourth case of JS patients with CEP104 mutations, which expands the mutation spectrum of CEP104 and elucidates the clinical heterogeneity of JS.
摘要：
Joubert综合征（JS，OMIM：213300）是一种隐性发育障碍，其特征是小脑椎骨发育不全和在轴向磁共振成像上称为“磨牙征”的独特中脑畸形。迄今为止,超过35个纤毛基因已被鉴定为JS的致病基因。
进行全外显子组测序以检测患有JS的中国患者的致病基因突变，然后进行Sanger测序。使用RT-PCR和Sanger测序来确认中心体蛋白104(CEP104,OMIM:616690)的异常转录物。
我们在先证者中鉴定了CEP104的两个新的杂合突变，这是c.2364+1G>A和c.414delC（p。Asn138Lysfs*11)(GenBank:NM_014704.3)并符合常染色体隐性遗传模式。
我们的研究报告了第四例具有CEP104突变的JS患者，这扩展了CEP104的突变谱，阐明了JS的临床异质性。
进行全外显子组测序以检测患有JS的中国患者的致病基因突变，然后进行Sanger测序。使用RT-PCR和Sanger测序来确认中心体蛋白104(CEP104,OMIM:616690)的异常转录物。
我们在先证者中鉴定了CEP104的两个新的杂合突变，这是c.2364+1G>A和c.414delC（p。Asn138Lysfs*11)(GenBank:NM_014704.3)并符合常染色体隐性遗传模式。
我们的研究报告了第四例具有CEP104突变的JS患者，这扩展了CEP104的突变谱，阐明了JS的临床异质性。
