Open Access

A de novo mutation of SALL4 in a Chinese family with Okihiro syndrome

  • Authors:
    • Xiuli Ma
    • Rui Huang
    • Guo Li
    • Tiesong Zhang
    • Jing Ma
  • View Affiliations

  • Published online on: February 17, 2022     https://doi.org/10.3892/mmr.2022.12647
  • Article Number: 131
  • Copyright: © Ma et al. This is an open access article distributed under the terms of Creative Commons Attribution License.

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Abstract

Okihiro syndrome is an autosomal dominant condition characterized by Duane anomaly and radial ray defects. The present study aimed to analyze the clinical manifestations of a patient with Okihiro syndrome and perform genetic testing on the proband and his family to determine the biological pathogenesis. Clinical data were collected from the proband and his family and genomic DNA was extracted from peripheral blood. Whole exome sequencing was performed by high‑throughput sequencing and mutation sites of the proband and his parents were validated by Sanger sequencing. The proband was diagnosed with Okihiro syndrome, which is characterized by bone abnormality in the arms and hands (radial ray malformation, absence of thumbs) and sensorineural hearing loss. A pathogenic heterozygous c.3060delG variant was identified in exon 4 of spalt‑like transcription factor 4 (SALL4) gene in the proband. This is a frameshift mutation that changes increases the length of SALL4 protein from 1,053 to 1,076 amino acids. The variant was classed as a de novo mutation because the parents of the proband showed no variation at this site. This variant is not included in the ClinVar database and, to the best of our knowledge, has not previously been reported. The de novo heterozygous c.3060delG variant was the molecular pathological cause of Okihiro syndrome in the present study and expanded the database of known SALL4 variants.
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April-2022
Volume 25 Issue 4

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Spandidos Publications style
Ma X, Huang R, Li G, Zhang T and Ma J: A <em>de novo</em> mutation of <em>SALL4</em> in a Chinese family with Okihiro syndrome. Mol Med Rep 25: 131, 2022
APA
Ma, X., Huang, R., Li, G., Zhang, T., & Ma, J. (2022). A <em>de novo</em> mutation of <em>SALL4</em> in a Chinese family with Okihiro syndrome. Molecular Medicine Reports, 25, 131. https://doi.org/10.3892/mmr.2022.12647
MLA
Ma, X., Huang, R., Li, G., Zhang, T., Ma, J."A <em>de novo</em> mutation of <em>SALL4</em> in a Chinese family with Okihiro syndrome". Molecular Medicine Reports 25.4 (2022): 131.
Chicago
Ma, X., Huang, R., Li, G., Zhang, T., Ma, J."A <em>de novo</em> mutation of <em>SALL4</em> in a Chinese family with Okihiro syndrome". Molecular Medicine Reports 25, no. 4 (2022): 131. https://doi.org/10.3892/mmr.2022.12647