INTU-related oral-facial-digital syndrome type VI: A confirmatory report.
Ange-Line BruelJonathan LévyN ElengaA DefoA FavreH LucronY CapriL PerrinS PassemardY VialA-C TabetL FaivreC Thauvin-RobinetAlain VerloesPublished in: Clinical genetics (2018)
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.
Keyphrases
- case report
- copy number
- genome wide
- heart failure
- mitochondrial dna
- mental health
- randomized controlled trial
- high resolution
- type diabetes
- adipose tissue
- transcription factor
- clinical trial
- small molecule
- gene expression
- metabolic syndrome
- single cell
- drug induced
- insulin resistance
- protein protein
- skeletal muscle
- patient reported
- phase iii