TY - JOUR AB - 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. AD - Department of Genetic and Metabolic Central Laboratory, Guangxi Maternal and Child Health Hospital, Nanning, Guangxi 530023, P.R. China Department of Medical Genetics, Southern Medical University, Guangzhou, Guangdong 510800, P.R. China AU - Yang,Qi AU - Zhang,Qiang AU - Chen,Fei AU - Yi,Shang AU - Li,Mengting AU - Yi,Sheng AU - Xu,Xingmin AU - Luo,Jingsi DA - 2021/04/01 DO - 10.3892/etm.2021.9742 IS - 4 JO - Exp Ther Med KW - cranioectodermal dysplasia ciliopathy combinations of mutations loss‑of‑function IFT122 PY - 2021 SN - 1792-0981 1792-1015 SP - 311 ST - A novel combination of biallelic IFT122 variants associated with cranioectodermal dysplasia: A case report T2 - Experimental and Therapeutic Medicine TI - A novel combination of biallelic IFT122 variants associated with cranioectodermal dysplasia: A case report UR - https://doi.org/10.3892/etm.2021.9742 VL - 21 ER -