title: A neonatal polyvisceral failure linked to a de novo homoplasmic mutation in the mitochondrially encoded cytochrome b gene.
abstract: 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.
authors: Department of Medical Genetics, Archet 2 Hospital, CHU of Nice, France.
authors: Konstantina
authors: K
authors: Fragaki
authors: Vincent
authors: V
authors: Procaccio
authors: Sylvie
authors: S
authors: Bannwarth
authors: Valérie
authors: V
authors: Serre
authors: Sean
authors: S
authors: O'Hearn
authors: Prasanth
authors: P
authors: Potluri
authors: Gaelle
authors: G
authors: Augé
authors: Florence
authors: F
authors: Casagrande
authors: Céline
authors: C
authors: Caruba
authors: Jean Claude
authors: JC
authors: Lambert
authors: Véronique
authors: V
authors: Paquis-Flucklinger
mesh_terms: 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
chemical_list: D004272:DNA, Mitochondrial; D045303:Cytochromes b