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Article

A novel ATRX mutation causes Smith‑Fineman‑Myers syndrome in a Chinese family

  • Authors:
    • Liangshan Li
    • Jing Yu
    • Xiao Zhang
    • Mengmeng Han
    • Wenmiao Liu
    • Hui Li
    • Shiguo Liu
  • View Affiliations / Copyright

    Affiliations: Medical Genetic Department, The Affiliated Hospital of Qingdao University, Qingdao, Shandong 266003, P.R. China, Department of Clinical Laboratory, Medical College of Qingdao University, Qingdao, Shandong 266071, P.R. China, Health Physical Examination Center, The Affiliated Hospital of Qingdao University, Qingdao, Shandong 266000, P.R. China
  • Pages: 387-392
    |
    Published online on: November 12, 2019
       https://doi.org/10.3892/mmr.2019.10818
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Abstract

Smith‑Fineman‑Myers syndrome (SFMS) is a rare inherited disorder characterized mainly by mental retardation and anomalies in the appearance of patients. SFMS is caused by a mutation in the α‑thalassemia/mental retardation syndrome X‑linked (ATRX) gene and has an X‑linked recessive pattern. In the present study, a novel ATRX mutation was identified, and the association between its genotype and the phenotype was explored in a Chinese Han family with SFMS. This study aimed to lay a foundation for prenatal diagnosis for this family. Briefly, genomic DNA was extracted from peripheral blood samples obtained from the family. High‑throughput genetic sequencing was employed to detect the whole exome; subsequently, Sanger sequencing was performed to verify the candidate mutations. Clinical analysis of the proband was also accomplished. Consequently, a novel missense ATRX mutation was identified comprising a single nucleotide change of C to T, which caused an amino acid substitution at codon 172 in exon 7 (c.515C>T; p.Thr172Ile) of the proband. This mutation was found to co‑segregate in the present SFMS pedigree and was located in a highly conserved region of the ATRX protein, thus suggesting that it may be a pathogenic mutation. Taken together, these findings provided novel information that may lead towards an improved understanding of the genetic and clinical features of patients with SFMS, thereby facilitating a more accurate prenatal diagnosis of SFMS.
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Copy and paste a formatted citation
Spandidos Publications style
Li L, Yu J, Zhang X, Han M, Liu W, Li H and Liu S: A novel ATRX mutation causes Smith‑Fineman‑Myers syndrome in a Chinese family. Mol Med Rep 21: 387-392, 2020.
APA
Li, L., Yu, J., Zhang, X., Han, M., Liu, W., Li, H., & Liu, S. (2020). A novel ATRX mutation causes Smith‑Fineman‑Myers syndrome in a Chinese family. Molecular Medicine Reports, 21, 387-392. https://doi.org/10.3892/mmr.2019.10818
MLA
Li, L., Yu, J., Zhang, X., Han, M., Liu, W., Li, H., Liu, S."A novel ATRX mutation causes Smith‑Fineman‑Myers syndrome in a Chinese family". Molecular Medicine Reports 21.1 (2020): 387-392.
Chicago
Li, L., Yu, J., Zhang, X., Han, M., Liu, W., Li, H., Liu, S."A novel ATRX mutation causes Smith‑Fineman‑Myers syndrome in a Chinese family". Molecular Medicine Reports 21, no. 1 (2020): 387-392. https://doi.org/10.3892/mmr.2019.10818
Copy and paste a formatted citation
x
Spandidos Publications style
Li L, Yu J, Zhang X, Han M, Liu W, Li H and Liu S: A novel ATRX mutation causes Smith‑Fineman‑Myers syndrome in a Chinese family. Mol Med Rep 21: 387-392, 2020.
APA
Li, L., Yu, J., Zhang, X., Han, M., Liu, W., Li, H., & Liu, S. (2020). A novel ATRX mutation causes Smith‑Fineman‑Myers syndrome in a Chinese family. Molecular Medicine Reports, 21, 387-392. https://doi.org/10.3892/mmr.2019.10818
MLA
Li, L., Yu, J., Zhang, X., Han, M., Liu, W., Li, H., Liu, S."A novel ATRX mutation causes Smith‑Fineman‑Myers syndrome in a Chinese family". Molecular Medicine Reports 21.1 (2020): 387-392.
Chicago
Li, L., Yu, J., Zhang, X., Han, M., Liu, W., Li, H., Liu, S."A novel ATRX mutation causes Smith‑Fineman‑Myers syndrome in a Chinese family". Molecular Medicine Reports 21, no. 1 (2020): 387-392. https://doi.org/10.3892/mmr.2019.10818
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