FOXI2: A possible gene contributing to ectodermal dysplasia
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John Libbey Eurotext
Abstract
Background: Cardio-facio-cutaneous syndrome (CFC), Noonan syndrome (NS), and Costello syndrome are a group of diseases that belong to the RASopathies. The syndromes share clinical features making diagnosis a challenge. Objectives: To investigate the phenotype and genotype of a 10-year-old Iraqi girl with overlapping features of CFC, NS, and Costello syndromes, with additional features of ectodermal dysplasia. Materials & methods: DNA was examined by exome sequencing and protein expression by immunohistochemistry. Results: Exome sequencing identified a mutation in the SOS1 gene and a de novo deletion in the FOXI2 gene which was neither present in the international databases, nor in 400 chromosomes from the same population. Based on immunohistochemical staining, FOXI2 was identified in the basal cell layer of the skin and overlapped with the expression of P63, a major player in ectodermal dysplasia. Conclusion: We therefore suggest screening for FOXI2 mutation in the setting of ectodermal features that are not associated with genes known to contribute to ectodermal dysplasia. © 2017, John Libbey Eurotext. All rights reserved.
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Cardio-facio-cutaneous syndrome, Foxi2, Noonan syndrome, Ras, Sos1, Child, Costello syndrome, Ectodermal dysplasia, Facies, Failure to thrive, Female, Heart defects, congenital, Humans, Mutation, Sos1 protein, Transcription factors, Tumor suppressor proteins, Foxi2 protein, Membrane protein, Protein p63, Unclassified drug, Sos protein, Tp63 protein, human, Transcription factor, Tumor suppressor protein, Article, Blood sampling, Cardio facio cutaneous syndrome, Case report, Chromosome, Clinical article, Dna extraction, Echocardiography, Foxi2 gene, Gene, Gene mutation, Genotype, Human, Human tissue, Immunohistochemistry, Multiple malformation syndrome, Phenotype, Protein expression, School child, Whole exome sequencing, Congenital heart malformation, Genetics, Pathology