INTU -related oral-facial-digital syndrome type VI: a confirmatory report

Abstract : Oral-facial-digital (OFD) syndromes are a subgroup of ciliopathies distinguished by the co-occurrence of hamartomas and/or multiple frenula of the oral region and digital anomalies. Several clinical forms of OFD are distinguished by their associated anomalies and/or inheritance patterns, and at least 20 genetic types of OFD have been delineated. We describe here a child with preaxial and postaxial polydactyly, lingual hamartoma, a congenital heart defect, delayed development and cerebellar peduncles displaying the molar tooth sign. Whole exome sequencing and SNP array identified compound heterozygous variants in the INTU gene, which encodes a protein involved in the positioning of the ciliary basal body. INTU is a subunit of the CPLANE multiprotein complex essential for the assembly of IFT-A particles and intraflagellar transport. This report of a second patient with INTU-related OFD and the further delineation of its neuroimaging and skeletal phenotype now allow INTU-related OFD to be classified within the OFD VI group. Patients display a phenotype similar to that of mice with a hypomorphic mutation of Intu, but with the addition of a heart defect.
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https://hal-univ-bourgogne.archives-ouvertes.fr/hal-01731277
Contributeur : Lnc - Université de Bourgogne <>
Soumis le : mercredi 14 mars 2018 - 09:15:08
Dernière modification le : samedi 18 mai 2019 - 13:52:01

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A. Bruel, J. Levy, N. Elenga, A. Defo, A. Favre, et al.. INTU -related oral-facial-digital syndrome type VI: a confirmatory report. Clinical Genetics, Wiley, 2018, 93 (6), pp.1205-1209. ⟨http://onlinelibrary.wiley.com/doi/10.1111/cge.13238/abstract;jsessionid=7F706E6AD2CB61F30C261D5257E5583E.f04t02#publication-history⟩. ⟨10.1111/cge.13238⟩. ⟨hal-01731277⟩

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