Table 1.
The variations in BCKDHA, BCKDHB, DBT, and DLD genes detected in the parents.
| Sample | Gene | Chromosome coordinate | Nucleotide change | Amino acid change | Type | MAF | dbSNP ID |
|---|---|---|---|---|---|---|---|
| Father | BCKDHA | chr19:41903675 | c.-58A>G | – | Homozygous | 0.0202 | rs892043 |
| BCKDHB | chr6:80837239 | c.197-25A>G | – | Homozygous | 0.3878 | rs9448893 | |
| BCKDHB | chr6:80877442 | c.391G>A | p.Gly131Arg | Heterozygous | – | – | |
| BCKDHB | chr6:80982701 | c.952-151G>A | – | Homozygous | 0.4026 | rs9341811 | |
| BCKDHB | chr6:81053217 | c.1039-164G>T | – | Homozygous | 0.2859 | rs2322763 | |
| DBT | chr1:100715454 | c.-78C>T | – | Homozygous | 0.2750 | rs3806235 | |
| DLD | chr7:107531279 | c.-417A>T | – | Heterozygous | 0.2760 | rs6943999 | |
| DLD | chr7:107545586 | c.438+83G>A | – | Heterozygous | 0.2758 | rs17412104 | |
| DLD | chr7:107545799 | c.439-7T>C | – | Heterozygous | 0.2840 | rs10263341 | |
| DLD | chr7:107559722 | c.∗18A>T | – | Heterozygous | 0.2758 | rs8721 | |
| Mother | BCKDHA | chr19:41919944 | c.376-10A>C | – | Homozygous | 0.3840 | rs3213861 |
| BCKDHA | chr19:41928652 | c.972C>T | p.Phe324 = | Homozygous | 0.3836 | rs284652 | |
| BCKDHA | chr19:41928765 | c.995+90C>T | - | Homozygous | 0.3860 | rs284655 | |
| BCKDHA | chr19:41930396 | c.1221A>G | p.Leu407 = | Homozygous | 0.3830 | rs4674 | |
| BCKDHA | chr19:41903699 | c.-34T>G | – | Heterozygous | 0.0825 | rs45500792 | |
| BCKDHB | chr6:80877371 | c.344-24C>T | – | Homozygous | 0.1298 | rs73479953 | |
| BCKDHB | chr6:80912977 | c.951+48C>T | – | Homozygous | 0.1296 | rs3749896 | |
| DBT | chr1:100715454 | c.-78C>T | – | Homozygous | 0.2750 | rs3806235 | |
| DLD | chr7:107531203 | c.-493C>T | – | Homozygous | 0.3636 | rs34572011 | |
| DLD | chr7:107545799 | c.439-7T>C | – | Homozygous | 0.2840 | rs10263341 | |
| DLD | chr7:107559732 | c.∗28G>T | – | Homozygous | 0.2003 | rs17154615 |
(1) Chromosome coordinates were based on the NCBI37/hg19 assembly of the human genome. NM_000709.3, NM_000056.4, NM_001918.3, and NM_000108.4 were employed as reference sequences for BCKDHA, BCKDHB, DBT, and DLD, respectively. (2) The symbol “–” indicates no change or record and the symbol “ = ” indicates a synonymous mutation or no change in amino acid residues. (3) “MAF,” referred to the frequency of the minor allele in 1000 Genomes database. (4) “dbSNP ID,” referred to the identification number of variations in NCBI dbSNP database 142.