PMC4397709_01
PMC4397709_02
PMC4397709_03
SLC19A2
Mutation analysis: Chromatograms showing the location of the c.1189A>T/R397X mutation in our patient, her parents and a control. The patient is homozygous (T/T) for the mutation, whilst both parents are heterozygous (A/T) carriers. The wild-type allele at same location is a homozygous (A/A) as shown in the control.
13633_2015_2_Fig1_HTML.jpg
PMC4397709_03_13633_2015_2_Fig1_HTML.jpg
Fig1
The c.1189A>T change is previously reported (SNP ID: rs371383730) in the heterozygous state in a single European-American individual on the Exome Variant Server. The parents of the patient were also found to be heterozygous carriers for the mutation, which was absent in the control (Figure 1).