| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
6 YR |
| Sex |
Female |
| Hispanic or Latino/Not Hispanic or Latino |
Hispanic/Latino |
| Racial Category |
White |
| Country |
USA |
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| Data Elements |
| Clinical Element Type: General NIGMS Catalog Remarks |
| (Baseline) |
| Mutation Information |
| Gene, variant, consequence, and exon number: |
EXOME SEQUENCING REVEALED TWO PATHOGENIC VARIANTS IN THE MMUT GENE (NM_000255). THE FIRST VARIANT (C.970G>A) RESULTS IN A MISSENSE MUTATION (P.ALA324THR). THE SECOND MUTATION (C.682C>T) ALSO RESULTS IN A MISSENSE MUTATION (P.ARG228TER). THE TWO PATHOGENIC FINDINGS IDENTIFIED, COMBINED WITH THE CLINICAL PRESENTATION OF THE PATIENT, SUGGEST THAT THESE MUTATIONS AFFECT BOTH THE MATERNAL AND PATERNAL COPIES OF THE GENE. |
| Zygosity: |
Compound Heterozygous |
| Other variants: |
EXOME SEQUENCING REVEALED A VARIANT OF UNCERTAIN SIGNIFICANCE (C.1196G>A) RESULTING IN A MISSENSE MUTATION (P.ARG399GLN) IN THE BCKDHA (NM_000709) GENE |
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| Additional Information |
| Testing Performed |
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| Remarks |
Clinically affected. Compound heterozygous pathogenic mutation c.970G>A (p.Ala324Thr), c.682C>T (p.Arg228Ter) in the MUT gene. Heterozygous VUS mutation c.1196G>A (p.Arg339Gln) in the BCKDHA gene. |