Regression

Gene: NDUFS2

Green List (high evidence)

Biallelic variants associated with respiratory chain complex I deficiency in multiple families. Developmental regression described in a number of reported cases.

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PMID 22036843 - report one patient with nystagmus, optic atrophy, seizures and regression.

PMID 20819849 - 4 unrelated patients with compound het variants with Leigh Syndrome/Leigh-like syndrome phenotype. One patient reported to have multiple seizures with normal EEGs.

PMID: 11220739 - 4 patients from 3 unrelated families, phenotypic features include regression, bilateral optic atrophy, nystagmus, MRI-B basal ganglia anomalies, cerebral atrophy, muscle hypotonia, hypertrophic cardiomyopathy.

PMID: 23266820 - 2 siblings, compound het - developmental regression, ataxic gait with spasticity, nystagmus, optic nerve atrophy

PMID 28031252 - 3 siblings, compound het. LHON-like optic neuropathy. No extra ocular features.

Created: 21 Mar 2022, 12:03 a.m. | Last Modified: 21 Mar 2022, 12:03 a.m.

Panel Version: 0.433

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial complex I deficiency, nuclear type 6 - MIM#618228

Publications

• 28031252
• 31411514
• 22036843
• 20819849
• 11220739
• 23266820
• 31411514