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Print ISSN: 1792-0981 Online ISSN: 1792-1015
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November-2019 Volume 18 Issue 5

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Case Report Open Access

A novel mutation in a common pathogenic gene (SETD5) associated with intellectual disability: A case report

  • Authors:
    • Yu‑Lian Fang
    • Rui‑Ping Zhang
    • Yi‑Zheng Wang
    • Li‑Rong Cao
    • Yu‑Qin Zhang
    • Chun‑Quan Cai
  • View Affiliations / Copyright

    Affiliations: Institute of Pediatrics, Tianjin Children's Hospital, Tianjin 300134, P.R. China, Graduate College of Tianjin Medical University, Tianjin 300070, P.R. China, Department of Neurology, Tianjin Children's Hospital, Tianjin 300134, P.R. China, Department of Neurosurgery, Tianjin Children's Hospital, Tianjin 300134, P.R. China
    Copyright: © Fang et al. This is an open access article distributed under the terms of Creative Commons Attribution License.
  • Pages: 3737-3740
    |
    Published online on: September 27, 2019
       https://doi.org/10.3892/etm.2019.8059
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Abstract

Intellectual disability (ID) is a non‑specific phenotype present in a genetically heterogeneous group of disorders. The genetic cause of ID remains elusive in the majority of patients due to this extreme heterogeneity. Whole exome sequencing technology has been applied to identify pathogenic gene variants responsible for ID. The present report described a 1.7‑year‑old female patient who had severe ID with the specific features of delayed motor development, language disorders and abnormal facial features. Exome analysis identified a novel pathogenic variant of the SETD5 gene [c.2025_2026delAG (p.Gly676Valfs*2)]. The variant was a frameshift mutation, causing termination of the protein in advance. These findings indicated that this mutation of the SETD5 gene may be a genetic cause for ID. The present study aimed to provide a meaningful exploration of ID and the identification of clinical core genetic pedigrees.
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Copy and paste a formatted citation
Spandidos Publications style
Fang YL, Zhang RP, Wang YZ, Cao LR, Zhang YQ and Cai CQ: A novel mutation in a common pathogenic gene (SETD5) associated with intellectual disability: A case report. Exp Ther Med 18: 3737-3740, 2019.
APA
Fang, Y., Zhang, R., Wang, Y., Cao, L., Zhang, Y., & Cai, C. (2019). A novel mutation in a common pathogenic gene (SETD5) associated with intellectual disability: A case report. Experimental and Therapeutic Medicine, 18, 3737-3740. https://doi.org/10.3892/etm.2019.8059
MLA
Fang, Y., Zhang, R., Wang, Y., Cao, L., Zhang, Y., Cai, C."A novel mutation in a common pathogenic gene (SETD5) associated with intellectual disability: A case report". Experimental and Therapeutic Medicine 18.5 (2019): 3737-3740.
Chicago
Fang, Y., Zhang, R., Wang, Y., Cao, L., Zhang, Y., Cai, C."A novel mutation in a common pathogenic gene (SETD5) associated with intellectual disability: A case report". Experimental and Therapeutic Medicine 18, no. 5 (2019): 3737-3740. https://doi.org/10.3892/etm.2019.8059
Copy and paste a formatted citation
x
Spandidos Publications style
Fang YL, Zhang RP, Wang YZ, Cao LR, Zhang YQ and Cai CQ: A novel mutation in a common pathogenic gene (SETD5) associated with intellectual disability: A case report. Exp Ther Med 18: 3737-3740, 2019.
APA
Fang, Y., Zhang, R., Wang, Y., Cao, L., Zhang, Y., & Cai, C. (2019). A novel mutation in a common pathogenic gene (SETD5) associated with intellectual disability: A case report. Experimental and Therapeutic Medicine, 18, 3737-3740. https://doi.org/10.3892/etm.2019.8059
MLA
Fang, Y., Zhang, R., Wang, Y., Cao, L., Zhang, Y., Cai, C."A novel mutation in a common pathogenic gene (SETD5) associated with intellectual disability: A case report". Experimental and Therapeutic Medicine 18.5 (2019): 3737-3740.
Chicago
Fang, Y., Zhang, R., Wang, Y., Cao, L., Zhang, Y., Cai, C."A novel mutation in a common pathogenic gene (SETD5) associated with intellectual disability: A case report". Experimental and Therapeutic Medicine 18, no. 5 (2019): 3737-3740. https://doi.org/10.3892/etm.2019.8059
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