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IFT43-Related Cranioectodermal Dysplasia Type 3: Clinical and Molecular Insights from the First Reported Turkish
Sinem Kocagil1, Hilal Gölcür1, Sabri Aynacı1
1Eskişehir Osmangazi University, Faculty of Medicine, Department of Medical Genetics, Eskişehir, Türkiye.
Insights
Cranioectodermal dysplasia type 3 (CED3) is a rare ciliopathy. This report details the third diagnosed patient with CED3, identified through whole-exome sequencing, expanding knowledge of this rare genetic disorder.
Area of Science:
- Genetics
- Rare Diseases
- Ciliopathies
Background:
- Cranioectodermal dysplasias (CEDs) are rare, autosomal recessive ciliopathies.
- CEDs present with craniofacial, skeletal, and ectodermal anomalies, growth retardation, and renal issues.
- IFT43-associated CED type 3 is an exceptionally rare subtype.
Purpose of the Study:
- To report the third case of IFT43-associated CED type 3.
- To describe the clinical presentation and 7-year follow-up of a patient with CED type 3.
- To contribute to understanding genotype-phenotype correlations in this rare ciliopathy.
Main Methods:
- Clinical case presentation and follow-up.
- Whole-exome sequencing (WES) for genetic analysis.
- Identification of compound heterozygous pathogenic variants in the IFT43 gene.
Main Results:
- The patient exhibited typical CED type 3 features: postaxial polydactyly, dolichocephaly, frontal bossing, and ectodermal abnormalities.
- Normal neurological development was observed.
- Compound heterozygous variants (c.55-1G>A and c.175C>T) in IFT43 were identified.
Conclusions:
- This case adds to the limited reported instances of IFT43-related CED type 3.
- The findings enhance the understanding of this rare ciliopathy.
- Further research is needed for precise clinical characterization and genotype-phenotype insights.
Introduction:
Cranioectodermal dysplasias (CEDs) are clinically and genetically heterogenous group of rare autosomal recessive ciliopathies characterized by craniofacial dysmorphism, skeletal and ectodermal anomalies, growth retardation, and renal involvement. To date, approximately 100 affected individuals have been reported in the literature and IFT43-associated CED type 3 is one of the rarest subtypes.
Case Presentation:
We report the third patient diagnosed with CED type 3, presenting with typical features of the disorder, including postaxial polydactyly, dolichocephaly, frontal bossing, and ectodermal abnormalities, along with normal neurological development, and follow-up findings over a 7-year period. Whole-exome sequencing revealed compound heterozygous pathogenic variants in the IFT43 gene NM_001102564.3:c.55-1G>A and NM_001102564.3:c.175C>T (p.Arg59*).
Conclusion:
We believe this patient contributes to the limited number of reported IFT43-related CED type 3 cases and expands our knowledge of this rare ciliopathy. Further research is required to more precisely characterize the clinical presentation and to better understand genotype-phenotype associations.
