Journal
HUMAN MUTATION
Volume 24, Issue 6, Pages 460-465Publisher
WILEY-LISS
DOI: 10.1002/humu.20094
Keywords
mucolipidosis IV; MCOLN1; mtDNA; MTND5; insertion
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Funding
- NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE [Z01NS002984, Z01NS002982] Funding Source: NIH RePORTER
- OFFICE OF THE DIRECTOR, NATIONAL INSTITUTES OF HEALTH [Z01OD022016] Funding Source: NIH RePORTER
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A patient with mucolipidosis-IV heterozygous for two mutations in MCOLN1 expressed only her father's cDNA mutation c.1207C>T predicting an R403C change in mucolipin. She inherited a 93bp segment from mitochondrial NADH dehydrogenase 5 (MTND5) from her mother that was inserted in,frame prior to the last nucleotide of exon 2 of MCOLN1 (c.236(-)237ins93). This alteration abolished proper splicing of MCOLN1. The splice site at the end of the exon was not used due to an inhibitory effect of the inserted segment, resulting in two aberrant splice products containing stop codons in the downstream intron. These products were eliminated via nonsense-mediated decay. This is the first report of an inherited transfer of mitochondrial nuclear DNA causing a genetic disease. The elimination of the splice site by the mitochondrial DNA requires a change in splicing prediction models. (C) 2004 Wiley-Liss, Inc.
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