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Print ISSN: 1792-0981 Online ISSN: 1792-1015
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June-2017 Volume 13 Issue 6

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Novel variant in the FGD1 gene causing Aarskog‑Scott syndrome

  • Authors:
    • Yihua Ge
    • Niu Li
    • Zhigang Wang
    • Jian Wang
    • Haiqing Cai

  • View Affiliations / Copyright

    Affiliations: Department of Pediatric Orthopedics, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai 200127, P.R. China, Institute of Pediatric Translational Medicine, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai 200127, P.R. China
    Copyright: © Ge et al. This is an open access article distributed under the terms of Creative Commons Attribution License.
  • Pages: 2623-2628
    |
    Published online on: April 5, 2017
       https://doi.org/10.3892/etm.2017.4301
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Abstract

Aarskog‑Scott syndrome (ASS) is a rare, X‑linked recessive inherited disorder. Affected individuals may develop short stature and exhibit distinctive skeletal and genital development. Mutations in the FYVE, rhogef and pleckstrin homology domain‑containing protein 1 (FGD1) gene, located within the Xp11.21 region, are responsible for the occurrence of ASS. Since it is rare and complex, it can take a long time to obtain a definitive clinical diagnosis unless clinicians are familiar with the disease. In the present study, whole‑exome sequencing (WES) was performed to screen for causal variants in a Chinese pediatric patient who exhibited a number of clinical symptoms of ASS, including short stature, facial abnormalities, stubby metacarpals and swollen testis. DNA sequencing revealed a novel c.1270 A>G mutation in exon 6 of the FGD1 gene, which led to an amino acid conversion of asparagine to aspartic acid on codon 424 and in silico analysis indicated that this novel missense mutation was pathogenic. The present study identified a novel variant of the FGD1 gene and to the best of our knowledge, is the first report of ASS in a Chinese individual. The results indicated that WES is an effective tool for the diagnosis of rare and complex syndromes such as ASS.

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Copy and paste a formatted citation
Spandidos Publications style
Ge Y, Li N, Wang Z, Wang J and Cai H: Novel variant in the FGD1 gene causing Aarskog‑Scott syndrome. Exp Ther Med 13: 2623-2628, 2017.
APA
Ge, Y., Li, N., Wang, Z., Wang, J., & Cai, H. (2017). Novel variant in the FGD1 gene causing Aarskog‑Scott syndrome. Experimental and Therapeutic Medicine, 13, 2623-2628. https://doi.org/10.3892/etm.2017.4301
MLA
Ge, Y., Li, N., Wang, Z., Wang, J., Cai, H."Novel variant in the FGD1 gene causing Aarskog‑Scott syndrome". Experimental and Therapeutic Medicine 13.6 (2017): 2623-2628.
Chicago
Ge, Y., Li, N., Wang, Z., Wang, J., Cai, H."Novel variant in the FGD1 gene causing Aarskog‑Scott syndrome". Experimental and Therapeutic Medicine 13, no. 6 (2017): 2623-2628. https://doi.org/10.3892/etm.2017.4301
Copy and paste a formatted citation
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Spandidos Publications style
Ge Y, Li N, Wang Z, Wang J and Cai H: Novel variant in the FGD1 gene causing Aarskog‑Scott syndrome. Exp Ther Med 13: 2623-2628, 2017.
APA
Ge, Y., Li, N., Wang, Z., Wang, J., & Cai, H. (2017). Novel variant in the FGD1 gene causing Aarskog‑Scott syndrome. Experimental and Therapeutic Medicine, 13, 2623-2628. https://doi.org/10.3892/etm.2017.4301
MLA
Ge, Y., Li, N., Wang, Z., Wang, J., Cai, H."Novel variant in the FGD1 gene causing Aarskog‑Scott syndrome". Experimental and Therapeutic Medicine 13.6 (2017): 2623-2628.
Chicago
Ge, Y., Li, N., Wang, Z., Wang, J., Cai, H."Novel variant in the FGD1 gene causing Aarskog‑Scott syndrome". Experimental and Therapeutic Medicine 13, no. 6 (2017): 2623-2628. https://doi.org/10.3892/etm.2017.4301
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