Rare IFT140-Associated Phenotype of Cranioectodermal Dysplasia and Features of Diagnostic Journey in Patients with Suspected Ciliopathies

Here we present a patient with a cranioectodermal phenotype associated with pathogenic variants in the IFT140 gene. Most frequently, pathogenic variants in IFT140 correspond to the phenotype of Mainzer–Saldino syndrome. Only four patients have previously been described with this cranioectodermal phe...

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Bibliographic Details
Published in:Genes 2023-07, Vol.14 (8), p.1553
Main Authors: Sharova, Margarita, Markova, Tatyana, Sumina, Maria, Petukhova, Marina, Bulakh, Maria, Ryzhkova, Oxana, Nagornova, Tatyana, Ionova, Sofya, Marakhonov, Andrey, Dadali, Elena, Kutsev, Sergey
Format: Article
Language:English
Subjects:
Algorithms
Analysis
Atrophy
Birth defects
Brief Report
Care and treatment
Child development
Clinical significance
Dysplasia
End-stage renal disease
Exons
Gene polymorphism
Genes
Genetic aspects
Genetic counseling
Genetic polymorphisms
Genomes
Genomics
Genotype & phenotype
Hair
Kidney diseases
Kidney transplantation
Kidneys
Medical genetics
Optic nerve
Patients
Phenotypes
Proteins
Renal failure
Retinopathy
Software
Test systems
Transplantation
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Summary:Here we present a patient with a cranioectodermal phenotype associated with pathogenic variants in the IFT140 gene. Most frequently, pathogenic variants in IFT140 correspond to the phenotype of Mainzer–Saldino syndrome. Only four patients have previously been described with this cranioectodermal phenotype and variants in IFT140. In comparison to other IFT140-cranioectodermal patients, our proband had similar skeletal features among with early onset end-stage renal failure that required kidney transplantation but did not have common ophthalmological features such as retinopathy, optic nerve atrophy, or nystagmus. Following exome sequencing, a splicing variant and exons 27–30 tandem duplication were suspected and further validated. The two other patients with Mainzer–Saldino syndrome that we described displayed a typical clinical picture but a special diagnostic journey. In both cases, at first only one pathogenic variant was detected following panel or exome NGS sequencing. Further WGS was performed for one of them where tandem duplication was found. Screening the third patient for the same tandem duplication was successful and revealed the presence of this duplication. Thus, we suggest that the description of the clinical feature polymorphism in a rare IFT140-cranioectodermal phenotype is extremely important for providing genetic counseling for families, as well as the formation of the correct diagnostic path for patients with a variant in IFT140.
ISSN:2073-4425
2073-4425
DOI:10.3390/genes14081553