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. 2015 Dec 16;24(8):1154–1159. doi: 10.1038/ejhg.2015.259

Figure 2.

Figure 2

Identification of a novel SLC52A2 mutation in family B. (a) T1-weighted sagittal brain MRI of the youngest patient II.2 at age 9 years, showing mild atrophy of the anterior superior cerebellar vermis. The cerebellum and cerebrum were otherwise normal. (b) Pedigree showing consanguinity and segregation of the disease with mutation c.401C>T causing the p.(Pro134Leu) missense change (P134L). (c) Sanger sequencing of the c.401C>T mutation: the two patients are homozygous for the substitution. The father is heterozygous for the same substitution. Sample of the mother was not available. (d) Amino-acid sequence comparison of orthologous SLC52A2 proteins from different species. Amino acids that are identical to the human SLC52A2 sequence are shown in bold. The position of missense mutation (on the top of the mutated amino acid proline, P, highlighted in yellow) is indicated by an arrow. The mutated amino acid is highly conserved (present in all orthologues of metazoan species).