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Prenatal diagnosis of respiratory chain deficiency by direct mutation screening
Author(s) -
Amiel Jeanne,
Gigarel Nadine,
Benacki Alexandra,
Benit Paule,
Valnot Isabelle,
Parfait Béatrice,
Von KleistRetzow JurgenChristoph,
Raclin Valérie,
HadjRabia Smaïl,
Dumez Yves,
Rustin Pierre,
Bonnefont JeanPaul,
Munnich Arnold,
Rötig Agnès
Publication year - 2001
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.126
Subject(s) - prenatal diagnosis , respiratory chain , genetic counseling , mutation , mitochondrial respiratory chain , medicine , gene , disease , mitochondrial disease , genetics , respiratory system , biology , mitochondrial dna , bioinformatics , mitochondrion , fetus , pregnancy
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. Copyright © 2001 John Wiley & Sons, Ltd.