Novel IFT122 mutations in three Argentinian patients with cranioectodermal dysplasia: expanding the mutational spectrum

Item Type:	Article
Title:	Novel IFT122 mutations in three Argentinian patients with cranioectodermal dysplasia: expanding the mutational spectrum
Creators Name:	Moosa, S. and Obregon, M.G. and Altmüller, J. and Thiele, H. and Nürnberg, P. and Fano, V. and Wollnik, B.
Abstract:	Cranioectodermal dysplasia (CED), also known as Sensenbrenner syndrome, is an autosomal recessive ciliary chondrodysplasia characterized by a recognizable craniofacial gestalt, skeletal abnormalities, and ectodermal features. To date, four genes have been shown to underlie the syndrome, namely, IFT122 (WDR10), WDR35 (IFT121), IFT43 (C14orf179), and WDR19 (IFT144). Clinical characterization of a larger cohort of patients with CED has been undertaken previously. Nevertheless, there are too few molecularly confirmed patients reported in the literature to determine precise genotype–phenotype correlations. To date, biallelic IFT122 mutations have been described in only five families. We therefore studied three unrelated Argentinian patients with typical features of CED using a 4813 next-generation sequencing (NGS) gene panel, which we call the “Mendeliome.” The three patients had different, novel, compound heterozygous mutations in IFT122. Consequently, we compared these three patients to those previously described with IFT122 mutations. Thus, our report serves to add 6 novel mutations to the IFT122 mutation spectrum and to contribute to the IFT122-related clinical characterization.
Keywords:	Sensenbrenner Syndrome, Cranioectodermal Dysplasia, CED-1, IFT122
Source:	American Journal of Medical Genetics Part A
ISSN:	1552-4825
Publisher:	Wiley
Volume:	170
Number:	5
Page Range:	1295-1301
Date:	May 2016
Official Publication:	https://doi.org/10.1002/ajmg.a.37570
PubMed:	View item in PubMed

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