Skip to main content
Figure 1 | BMC Medical Genetics

Figure 1

From: Variability of systemic and oro-dental phenotype in two families with non-lethal Raine syndrome with FAM20C mutations

Figure 1

Pedigree and genetic results from Family 1. (A) Pedigree of the family I suggesting an autosomal recessive mode of inheritance. (B) Electropherogram showing wild-type and mutant sequence of the p.W202Cfs*37 mutation identified in Family 1. (C) Analysis of the cDNA from affected family members revealed the mutation resulted in skipping of exon 2. (D) RT-PCR over the mutation shows the reduction in transcript size in the mutant allele and also the presence of some wild-type sized transcript.

Back to article page

BMC Medical Genetics

ISSN: 1471-2350

Contact us