Abstract
BackgroundJoubert 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.MethodsWhole 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).ResultsWe 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.ConclusionOur 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.
Highlights
Joubert syndrome (JS, OMIM:213300)is a rare neurological disease defined by mid‐hindbrain abnormalities which show “molar tooth sign” (MTS) on brain imaging (Maria et al, 1997; Poretti et al, 2017)
In 2015, four mutations of CEP104 (OMIM: 616690) were found in three JS patients, which elucidated that CEP104 is one of the causative genes of JS (Srour et al, 2015)
We report a Chinese boy with CEP104 mutations presenting with symptoms consistent with JS, displaying global developmental delay, facial dysmorphism, oculomotor apraxia, and hypotonia
Summary
The work was supported by the following: National Natural Science Foundation of China (81400937) and the Non‐Profit Central Research Institute Fund of National Research Institute for Family Planning (2018GJZ02) to Minna Luo, Program for Eastern Young Scholar at Shanghai Institutions of Higher Learning (QD2018022) to Muqing Cao, National Key Research and Development Program of China (2016YFC1000307) to Xu Ma.
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