Table 1.
Fifteen novel mutations in the SLC25A13 gene of citrin-deficient patients from different countries.
Figure 1.
PCR-RFLP approaches for the carrier rate investigation of the 5 novel missense mutations.
The figures to
were representative gel electrophoresis of the RE-digested PCR products of the mutations c.443A>G, c.527G>T, c.16-2A>T, c.1498T>G and c.1215G>T, while the figures
to
illustrated schematically the PCR-RFLP procedures for the 5 mutations, respectively. In
, both the patient P917 and one of her brothers B1 harbored the maternally-inherited novel mutation c.16-2A>T.
Figure 2.
Comparative alignment of the homologous proteins.
The homologous proteins include human citrin (Homo sapiens) and aralar, and the others from 9 different eukaryotic species, i.e. Chimpanzee, Dog, Mouse, Rat, Chicken, Xenopus Tropicalis (X.Tropicalis), Caenorhabditis elegans (C. elegans), Opossum and Cow, respectively. The closed brown boxes in this figure represented the EF-hand or TM helices in citrin protein, as clarified in the reference by Kobayashi et al, 1999.
Table 2.
The SLC25A13 ASVs detected by cDNA analysis in the patient C0054.
Figure 3.
Identification of the large transposal insertion IVS4ins6kb (GenBank accession number: KF425758).
Seven SNPs within the introns 4 and 5 were analyzed, and all of them were heterozygous but rs67843496 (The schematic overhead), an SNP detected heterozygously when amplified by the primers set A () while homozygously with set B (
). LA-PCR with the primers set C yielded an unexpected band of 7.5 kb inherited from the mother C0054M besides the expected 1439 bp product from the father C0054F (
). Segmental sequencing of the 7.5 bp product revealed a 6057 bp insertion from 16p11.2 (The sequence in green) along with two repetitive sequences of 15 bp at both sides (Shaded boxes), as illustrated in
. Underlined were the positions of the primers IVS5F and IVS5A4 (Set C) for LA-PCR.
Table 3.
Update of SLC25A13 mutations in patients with citrin deficiency.
Table 4.
Molecular and clinical information of 60 new NICCD patients in China.
Figure 4.
Native places of the 116 Chinese patients with citrin deficiency.
By the end of February in 2013, 116 Chinese patients from 21 provinces, municipalities and autonomous regions in China were diagnosed by SLC25A13 gene analysis by our group. This figure indicated their native places, with the patient numbers in the parentheses behind.
Table 5.
Frequency and proportion of the mutated SLC25A13 alleles in the large Chinese Pediatric cohort.