Regression

Gene: NDUFAF3

Green List (high evidence)

7 patients from 5 unrelated families reported.

PMID: 27986404 - report a patient with bilateral optic atrophy, horizontal nystagmus, progressive growth failure and subsequent regression. MRI-B anomalies included symmetric bilateral basal ganglia and brainstem lesions. Homozygous NDUFAF3 variant noted. Patient-derived skin fibroblasts were examined for the activity of the respiratory chain enzymes. The results showed an isolated complex I deficiency, combined with a normal to slightly elevated activity of the other OXPHOS enzymes.

PMID: 29344937 - report a patient with developmental delay, regression and MRI-B anomalies (leukoencephalopathy, cavitations including in the corpus callosum).

PMID: 19463981 - describe five patients from three families. Family 1 - all 3 children died at/before 3 months of age - increased muscle tone, lactic acidosis. Family 2 - report one individual with macrocephaly (head circumference +3 SD), a weak cry, wide anterior fontanelle, axial hypotonia, seizures, optic disc anomalies with elevated plasma and CSF lactate and developmental regression with death in infancy. Family 3 - one affected individual with seizure disorder, MRI-B - diffuse brain leukolmalacia, abdomenl U/S L) hydroureter and hydronephrosis. Skin fibroblasts showed mitochondrial complex I deficiency. Died at 6 months of age

Created: 18 Mar 2022, 4:43 a.m. | Last Modified: 18 Mar 2022, 4:43 a.m.

Panel Version: 0.419

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial complex I deficiency, nuclear type 18 - MIM#618240

Publications

• 27986404
• 29344937
• 19463981