Journal
CLINICAL GENETICS
Volume 93, Issue 6, Pages 1205-1209Publisher
WILEY
DOI: 10.1111/cge.13238
Keywords
CPLANE; INTU; NGS; oral-facial-digital syndrome
Categories
Funding
- French Ministry of Health [2010-A01 014-35, 2013]
- Regional Council of Burgundy
- FEDER
- French Foundation for Rare Diseases
- GIS-Institut des Maladies Rares (HTS)
- Ministry of Health
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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 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 syndrome and the further delineation of its neuroimaging and skeletal phenotype now allow INTU-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 Intu, but with the addition of a heart defect.
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