Open Access

A novel combination of biallelic IFT122 variants associated with cranioectodermal dysplasia: A case report

  • Authors:
    • Qi Yang
    • Qiang Zhang
    • Fei Chen
    • Shang Yi
    • Mengting Li
    • Sheng Yi
    • Xingmin Xu
    • Jingsi Luo
  • View Affiliations

  • Published online on: February 1, 2021     https://doi.org/10.3892/etm.2021.9742
  • Article Number: 311
  • Copyright: © Yang et al. This is an open access article distributed under the terms of Creative Commons Attribution License.

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Abstract

Cranioectodermal dysplasia (CED) or Sensenbrenner syndrome is a very rare autosomal‑recessive disease that is characterized by craniofacial, skeletal and ectodermal abnormalities. The proteins encoded by six CED‑associated genes are members of the intraflagelline transport (IFT) system, which serves an essential role in the assembly, maintenance and function of primary cilia. The current study identified compound novel heterozygous IFT122 (NM_052985.3) variants in a male Chinese infant with CED. The latter variant changes the length of the protein and may result in the partial loss‑of‑function of IFT122. With the simultaneous presence of frameshift and stop‑loss variants, the patient manifested typical CED with fine and sparse hair, macrocephaly, dysmorphic facial features and upper limb phocomelia. A number of unusual phenotypic characteristics were additionally observed and included postaxial polydactyly of both hands and feet. The molecular confirmation of CED in this patient expands the CED‑associated variant spectrum of IFT122 in CED, while the manifestation of CED in this patient provides additional clinical information regarding this syndrome. Moreover, the two variants identified in the proband provide a novel perspective into the phenotypes caused by different combinations of variants.
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April-2021
Volume 21 Issue 4

Print ISSN: 1792-0981
Online ISSN:1792-1015

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Spandidos Publications style
Yang Q, Zhang Q, Chen F, Yi S, Li M, Yi S, Xu X and Luo J: A novel combination of biallelic IFT122 variants associated with cranioectodermal dysplasia: A case report. Exp Ther Med 21: 311, 2021
APA
Yang, Q., Zhang, Q., Chen, F., Yi, S., Li, M., Yi, S. ... Luo, J. (2021). A novel combination of biallelic IFT122 variants associated with cranioectodermal dysplasia: A case report. Experimental and Therapeutic Medicine, 21, 311. https://doi.org/10.3892/etm.2021.9742
MLA
Yang, Q., Zhang, Q., Chen, F., Yi, S., Li, M., Yi, S., Xu, X., Luo, J."A novel combination of biallelic IFT122 variants associated with cranioectodermal dysplasia: A case report". Experimental and Therapeutic Medicine 21.4 (2021): 311.
Chicago
Yang, Q., Zhang, Q., Chen, F., Yi, S., Li, M., Yi, S., Xu, X., Luo, J."A novel combination of biallelic IFT122 variants associated with cranioectodermal dysplasia: A case report". Experimental and Therapeutic Medicine 21, no. 4 (2021): 311. https://doi.org/10.3892/etm.2021.9742