Article
Expanding the phenotype associated with biallelic SCNM1 variants.
Human genomics - 25 Nov 2025
Iturrate Asier, Tran-Mau Them Frédéric, Verloes Alain, Pouzet Antoine, de Silva Deepthi, Perrin-Sabourin Laurence, Wentzensen Ingrid M, Jones Kennedi, Upadia Jariya, Abdalla Ebtesam, Thauvin-Robinet Christel, Ruiz-Perez Victor L, Bruel Ange-Line
Abstract excerpt
BACKGROUND: Oral-facial-digital (OFD) syndrome comprises a number of genetically and clinically heterogeneous ciliopathies characterized by distinctive craniofacial, oral cavity and extremities abnormalities. Recently, SCNM1, encoding a protein component of the minor spliceosome, was associated with OFD syndrome. Until now, only three families had been described with pathogenic variants in this gene. RESULTS:...
Topics
- Humans
- Phenotype
- Female
- Orofaciodigital Syndromes
- Male
- Alleles
- Mutation, Missense
- Fibroblasts
- Exome Sequencing
- Pedigree
- Child