Details

Autor(en) / Beteiligte

• Zanette, Vanessa
• Valle, Daniel do
• Telles, Bruno Augusto
• Robinson, Alan J.
• Monteiro, Vaneisse
• Santos, Mara Lucia S. F.
• Souza, Ricardo Lehtonen R.
• Benincá, Cristiane

Titel

NDUFV1 mutations in complex I deficiency: Case reports and review of symptoms

Ist Teil von

• Genetics and molecular biology, 2021-01, Vol.44 (4), p.e20210149-e20210149

Ort / Verlag

Sociedade Brasileira de Genética

Erscheinungsjahr

2021

Link zum Volltext

Quelle

EZB Electronic Journals Library

Beschreibungen/Notizen

• Mitochondrial complex I (CI) deficiency is the most common oxidative phosphorylation disorder described. It shows a wide range of phenotypes with poor correlation within genotypes. Herein we expand the clinics and genetics of CI deficiency in the brazilian population by reporting three patients with pathogenic (c.640G>A, c.1268C>T, c.1207dupG) and likely pathogenic (c.766C>T) variants in the NDUFV1 gene. We show the mutation c.766C>T associated with a childhood onset phenotype of hypotonia, muscle weakness, psychomotor regression, lethargy, dysphagia, and strabismus. Additionally, this mutation was found to be associated with headaches and exercise intolerance in adulthood. We also review reported pathogenic variants in NDUFV1 highlighting the wide phenotypic heterogeneity in CI deficiency.