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A Case of End-Stage Renal Disease with Joubert Syndrome due to CEP290 Mutation  

Kim, Sung Hoon (Department of Pediatrics, Samsung Changwon Hospital, Sungkyunkwan University School of Medicine)
Lee, Sang Taek (Department of Pediatrics, Samsung Changwon Hospital, Sungkyunkwan University School of Medicine)
Seong, Moon-Woo (Department of Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine)
Kim, Man Jin (Department of Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine)
Lee, Jun Hwa (Department of Pediatrics, Samsung Changwon Hospital, Sungkyunkwan University School of Medicine)
Publication Information
Journal of The Korean Society of Inherited Metabolic disease / v.20, no.1, 2020 , pp. 29-35 More about this Journal
Abstract
Joubert syndrome (JS) is a rare genetic disorder that is characterized by ataxia, hypotonia, developmental delay, respiratory abnormalities such as apnea-hyperpnea, and abnormal eye movements. The pathognomonic diagnostic finding is the "molar tooth sign" (MTS) on brain magnetic resonance imaging (MRI), described as cerebellar vermis hypoplasia or dysplasia, thick and horizontally oriented superior cerebellar peduncles, and an abnormally deep interpeduncular fossa. JS is characterized by genetic heterogeneity: pathogenic variants in over 30 genes have been identified to date. The CEP290 protein, which is on chromosome 12q21.3, is most frequently mutated in patients with JS, especially with renal involvement. Here, we report a case of JS in a 14-year-old male patient with end-stage renal disease. To the best of our knowledge, this is the first Korean report of a patient with JS due to CEP290 mutation (c.6012-12T> A) whose diagnosis was confirmed after repetitive MRI. We suggest consultation with an experienced neuro-radiologist and follow-up MRI studies to detect a "hidden" MTS if clinical findings suggest a diagnosis of JS. Furthermore, even in the absence of an MTS, whole exome sequencing should be considered.
Keywords
Joubert syndrome; Molar tooth sign; Chronic renal failure; CEP290 mutation;
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