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Novel IFT122 mutations in three Argentinian patients with cranioectodermal dysplasia: Expanding the mutational spectrum
Author(s) -
Moosa Shahida,
Obregon Maria Gabriela,
Altmüller Janine,
Thiele Holger,
Nürnberg Peter,
Fano Virginia,
Wollnik Bernd
Publication year - 2016
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.37570
Subject(s) - genetics , biology
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. © 2016 Wiley Periodicals, Inc.