<italic>INTU</italic>‐related oral‐facial‐digital syndrome type VI: A confirmatory report.

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 syndromes are distinguished by their associated anomalies and/or inheritance patterns, and at least 20 genetic types of OFD syndromes 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 <italic>INTU</italic> 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 <italic>INTU</italic>‐related OFD syndrome and the further delineation of its neuroimaging and skeletal phenotype now allow <italic>INTU</italic>‐related OFD syndromes to be classified within the OFD syndrome type VI group. Patients display a phenotype similar to that of mice with a hypomorphic mutation of <italic>Intu</italic>, but with the addition of a heart defect. [ABSTRACT FROM AUTHOR]