Novel double-deletion mutations of the OFD1 gene creating multiple novel transcripts.

Abstract excerpt

Oral-facial-digital syndrome type 1 (OFD1) is an X-linked dominant disease characterized by malformations of the face, oral cavity, and digits. Thus far, 18 small mutations in the OFD1 gene have been reported. Here, we describe, in one Japanese sporadic female OFD1 case, the presence of a novel pair of deletion mutations: a 4,094-bp deletion encompassing exon 7 to intron 9, and a 14-bp deletion in intron 9, both...

Topics

• Base Sequence
• DNA Mutational Analysis
• Female
• Haplotypes
• Humans
• Infant
• Molecular Sequence Data
• Mutation
• Orofaciodigital Syndromes
• Pedigree
• RNA, Messenger