FOXI2: a possible gene contributing to ectodermal dysplasia
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.
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.
Exome sequencing identified a mutation in the SOS1 gene and a de novo deletion in the FOXI2 gene whichwas neither present in the international databases, nor in 400 chromosomes from the same population. Based on immunohistochemical staining, FOXI2was identified in the basal cell layer of the skin and overlapped with the expression of P63, a major player in ectodermal dysplasia.
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.
Key wordscardio-facio-cutaneous syndrome Noonan syndrome RAS SOS1 FOXI2
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- 2.Rauen KA. Cardiofaciocutaneous Syndrome. In: Pagon RA, Adam MP, Ardinger HH, et al, editors. GeneReviews(R). Seattle (WA), 1993.Google Scholar