Abstract
Recently, two research groups reported that mutations in RMND1 were associated with encephalopathy, elevated lactate, hypotonia, and in some patients seizures or myoclonia in individuals from two consanguineous families. A combined respiratory chain deficiency and a defect in mitochondrial protein translation was found. In this study, we report two siblings who are compound heterozygous for the mutations, c.713A>G and c.1003delG, in RMND1. Respiratory chain enzymatic analysis and BN-PAGE showed a combined OXPHOS deficiency. Western blot analysis indicated normal levels of RMND1, but the assembly of the RMND1 homopolymeric complex was highly impaired. The two siblings had a markedly milder phenotype and longer survival compared to previously reported patients. In addition, they had renal failure and hearing impairment. These two newly described patients contribute to delineation of the clinical spectrum associated with RMND1 aberrations.
| Original language | English |
|---|---|
| Journal | American Journal of Medical Genetics. Part A |
| Volume | 170 |
| Issue number | 1 |
| Pages (from-to) | 142-147 |
| Number of pages | 6 |
| ISSN | 1552-4825 |
| DOIs | |
| Publication status | Published - 1 Jan 2016 |
Keywords
- Adolescent
- Amino Acid Sequence
- Cell Cycle Proteins
- Child
- Child, Preschool
- Female
- Hearing Loss
- Humans
- Infant
- Infant, Newborn
- Male
- Mitochondria
- Mitochondrial Diseases
- Molecular Sequence Data
- Mutation
- Pedigree
- Protein Biosynthesis
- Renal Insufficiency
- Sequence Homology, Amino Acid
- Case Reports