Confirmation that mutations in DDX59 cause an autosomal recessive form of oral-facial-digital syndrome: Further delineation of the DDX59 phenotype in two new families.

Abstract excerpt

We report three probands from two unrelated consanguineous families of South Asian origin who all carry the same rare novel homozygous variant within the dead box helicase gene DDX59 in association with features of oral-facial-digital syndrome (OFDS). DDX59 variants have been reported previously in an unclassified, autosomal recessive form of OFDS; clinically associated with features including tongue lobulation,...

Topics

• Adult
• Child
• Child, Preschool
• Codon, Terminator
• Female
• Genes, Recessive
• Humans
• Infant
• Male
• Mutation
• Orofaciodigital Syndromes