title: Prenatal diagnosis of respiratory chain deficiency by direct mutation screening.
abstract: Respiratory chain deficiency (RCD) is responsible for a clinically heterogeneous group of early-onset untreatable disorders. Enzymological prenatal diagnosis (PD) can only be offered to a fraction of families. Moreover, due to the two-fold genetic origin of the respiratory chain (nuclear and mitochondrial DNA) and owing to the large number of nuclear genes involved in the respiratory chain assembly, maintenance and functioning, the identification of the disease causing gene in a given family remains challenging. Here, we report on PD of RCD by direct screening of NDUFV1, SDH-Fp, SCO1 and SURF1 mutations in five unrelated families with complex I, II and IV deficiency, respectively. The identification of the disease-causing gene in a given family with RCD is a major issue to provide both adequate genetic counselling and early, reliable PD.
authors.affiliation: Département de Génétique et Unité INSERM U-393, 149 rue de Sèvres, 75743 Paris cedex 15, France. amiel@necker.fr
authors.forename: J
authors.initials: J
authors.lastname: Amiel
authors.forename: N
authors.initials: N
authors.lastname: Gigarel
authors.forename: A
authors.initials: A
authors.lastname: Benacki
authors.forename: P
authors.initials: P
authors.lastname: Benit
authors.forename: I
authors.initials: I
authors.lastname: Valnot
authors.forename: B
authors.initials: B
authors.lastname: Parfait
authors.forename: J C
authors.initials: JC
authors.lastname: Von Kleist-Retzow
authors.forename: V
authors.initials: V
authors.lastname: Raclin
authors.forename: S
authors.initials: S
authors.lastname: Hadj-Rabia
authors.forename: Y
authors.initials: Y
authors.lastname: Dumez
authors.forename: P
authors.initials: P
authors.lastname: Rustin
authors.forename: J P
authors.initials: JP
authors.lastname: Bonnefont
authors.forename: A
authors.initials: A
authors.lastname: Munnich
authors.forename: A
authors.initials: A
authors.lastname: Rötig
mesh_terms: D004579:Electron Transport / Q000235:genetics*; D042967:Electron Transport Complex I; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis* / Q000235:genetics; D005820:Genetic Testing; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics; D008928:Mitochondria / Q000235:genetics; D017240:Mitochondrial Myopathies / Q000175:diagnosis* / Q000235:genetics; D024101:Mitochondrial Proteins; D018832:Molecular Chaperones; D009154:Mutation; D009245:NADH Dehydrogenase; D011237:Predictive Value of Tests; D011247:Pregnancy; D011296:Prenatal Diagnosis; D011506:Proteins / Q000235:genetics
chemical_list: D008565:Membrane Proteins; D024101:Mitochondrial Proteins; D018832:Molecular Chaperones; C112232:NDUFV1 protein, human; D011506:Proteins; C489345:SCO1 protein, human; C092928:Surf-1 protein; D009245:NADH Dehydrogenase; D042967:Electron Transport Complex I