A neonatal polyvisceral failure linked to a de novo homoplasmic mutation in the mitochondrially encoded cytochrome b gene.
Mutations within the mitochondrially encoded cytochrome b (MTCYB) gene are heteroplasmic and lead to severe exercise intolerance. We describe an unusual clinical presentation secondary to a novel homoplasmic mutation within MTCYB. The m.15635T>C transition (S297P) was carried by a newborn who presented with a polyvisceral failure. This mutation was responsible for a complex III deficiency. It was homoplasmic in all tissues tested and was undetectable in patient's mother. Functional analyses, including studies on patient's cybrid cell lines, demonstrate the pathogenicity of this variant. Our data show that mutations within MTCYB can be responsible for severe phenotype at birth.
Fragaki
Konstantina
K
Department of Medical Genetics, Archet 2 Hospital, CHU of Nice, France.
Procaccio
Vincent
V
Bannwarth
Sylvie
S
Serre
Valérie
V
O'Hearn
Sean
S
Potluri
Prasanth
P
Augé
Gaelle
G
Casagrande
Florence
F
Caruba
Céline
C
Lambert
Jean Claude
JC
Paquis-Flucklinger
Véronique
V
D000328:Adult; D002648:Child; D045303:Cytochromes b / Q000172:deficiency* / Q000235:genetics*; D004272:DNA, Mitochondrial / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D028361:Mitochondrial Diseases / Q000235:genetics*; D009102:Multiple Organ Failure / Q000235:genetics*; D020125:Mutation, Missense; D017354:Point Mutation; D055815:Young Adult
D004272:DNA, Mitochondrial; D045303:Cytochromes b