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Cep104 Gene May Involve in the Pathogenesis of a New Developmental Disorder Other Than Joubert Syndrome Publisher Pubmed



Badv RS1 ; Mahdiannasser M2 ; Rasoulinezhad M1 ; Habibi L3 ; Rashidinezhad A4, 5, 6
Authors
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Authors Affiliations
  1. 1. Children’s Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran
  2. 2. Department of Medical Genetics, Faculty of Medicine, Tehran University of Medical Sciences, Tehran, Iran
  3. 3. Ronash Medical Genetics Center, Tehran, Iran
  4. 4. Maternal, Fetal and Neonatal Research Center, Family Health Research Institute, Tehran University of Medical Sciences, Tehran, Iran
  5. 5. Genetic Ward, Yas Hospital Complex, Tehran University of Medical Sciences, Tehran, Iran
  6. 6. Maternal, Fetal and Neonatal Research Center, Family Health Research Institute, Valiasr Hospital, 2nd floor, Baqerkhan st., P.O.Box:1419733141, Tehran, Iran

Source: Molecular Biology Reports Published:2022


Abstract

Background: The CEP104 gene (OMIM: 616,690) encodes the centrosome protein 104 (CEP104) that is involved in cilia function. Pathogenic variants in this gene have been described in four patients diagnosed with Joubert syndrome (JBTS) 25. Here, we challenged the concept that pathogenic variants in CEP104 gene are only involved in the development of JBTS 25. Methods and results: In a clinical setting, whole-exome sequencing (WES) was applied to investigate pathogenic variants in patients with unexplained developmental delay or intellectual disability (DD/ID).WES revealed a novel homozygous nonsense variant (c.643C > T) in CEP104 (NM _014704.3) in a girl with mild intellectual disability, hypotonia, and imbalanced gait. Her brain MRI data did not show molar tooth sign (MTS) or any other brain anomalies. Conclusion: Our study introduced a novel variant in the CEP104 gene that results in an ID phenotype other than JBTS25. Comparison of her phenotype with that of eight previously published DD/ID patients harboring pathogenic variants in CEP104 gene revealed that more than half of them did not show JBTS related symptoms. Therefore, we suggest that the CEP104 gene might also be involved in a disorder other than JBTS 25, a point that deserves to be emerged in the OMIM database. © 2022, The Author(s), under exclusive licence to Springer Nature B.V.
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