INTU-related oral-facial-digital syndrome type VI: A confirmatory report
2018
Oral-facial-digital (OFD) syndromes are a subgroup of
ciliopathiesdistinguished by the co-occurrence of
hamartomasand/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 pedunclesdisplaying the molar tooth sign. Whole
exome sequencingand
SNP arrayidentified 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 complexessential 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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