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

American Journal of Medical Genetics. Part a
Shahida MoosaBernd Wollnik

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.

References

Oct 6, 2006·American Journal of Medical Genetics. Part a·Marco ZaffanelloFrancesco Emma
Sep 18, 2009·American Journal of Medical Genetics. Part a·Andrew E FryDaniela T Pilz
Oct 31, 2009·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Magdalena Cardenas-Rodriguez, Jose L Badano
May 25, 2010·American Journal of Human Genetics·Joanna Walczak-SztulpaAndreas W Kuss
Oct 15, 2013·American Journal of Medical Genetics. Part a·Angela E LinHeleen H Arts
Apr 2, 2014·Molecular Genetics & Genomic Medicine·Anas M AlazamiFowzan S Alkuraya

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Citations

Jul 13, 2017·Nature Reviews. Molecular Cell Biology·Jeremy F Reiter, Michel R Leroux
Jan 9, 2018·Nature Reviews. Nephrology·Emily E GroopmanAli G Gharavi
Aug 18, 2020·American Journal of Medical Genetics. Part a·Joanna Walczak-SztulpaEwa Obersztyn
Dec 9, 2017·Human Molecular Genetics·Mariko TakaharaKazuhisa Nakayama
Jan 23, 2020·Japanese Journal of Radiology·Atsuhiko HandaGen Nishimura
Apr 4, 2017·American Journal of Medical Genetics. Part a·Karina C SilveiraDenise P Cavalcanti

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