case_images: PMC4397709_01
case_images: PMC4397709_02
case_images: PMC4397709_03
case_images: 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.
case_images: 13633_2015_2_Fig1_HTML.jpg
case_images: PMC4397709_03_13633_2015_2_Fig1_HTML.jpg
case_images: Fig1
case_images: 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).