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Can I read A novel combination of biallelic IFT122 variants associated with cranioectodermal dysplasia: A case report on EtoBox?
A novel combination of biallelic IFT122 variants associated with cranioectodermal dysplasia: A case report by Qi Yang; Qiang Zhang; Fei Chen; Shang Yi; Shang Yi; Mengting Li; Sheng Yi; Xingmin Xu; Jingsi Luo is a Biochemistry, Genetics and Molecular Biology article available to read on EtoBox.
What is A novel combination of biallelic IFT122 variants associated with cranioectodermal dysplasia: A case report about?
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 vari
Who reads A novel combination of biallelic IFT122 variants associated with cranioectodermal dysplasia: A case report?
It is typically read by researchers, students, and practitioners in Biochemistry, Genetics and Molecular Biology.
- Author
- Qi Yang; Qiang Zhang; Fei Chen; Shang Yi; Shang Yi; Mengting Li; Sheng Yi; Xingmin Xu; Jingsi Luo
- Publisher
- Spandidos Publications
- Published
- 2021
- Language
- EN
- Field
- Biochemistry, Genetics and Molecular Biology (Life Sciences)