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Optic neuropathy v6.34 NDUFB11 Ida Ertmanska changed review comment from: PMID: 41234160 Fiorini et al., 2025
Authors identified candidate causative variants in 31 patients from 23 unrelated families, with biallelic or hemizygous variants in 11 different nuclear Complex I related genes.

Family O - proband with hemizygous NDUFB11 variant c.276_278del p.(F93del) and insidious OA onset at 0-1yrs, optic nerve atrophy seen on MRI, temporal pallor on fundus exam, megaloblastic anaemia, abnormality of the gallbladder, and folate deficiency.

PMID: 27488349 Lichtenstein et al., 2016
Report of 5 males from 4 families with hemizygous NDUFB11 c.276_278del, p.F93del variant and congenital sideroblastic anemia. Method: WES. Heterozygous females were unaffected, X-inactivation skewing. Recurrent variant, confirmed de novo in one proband, and another proband's mother - posed to occur due to polymerase slipping. Variable syndromic features seen in addition to anemia: short stature (2 families), optic atrophy + DD (1 family), myopathy (2 families), lactic acidosis (1 individual); epilepsy, single kidney, pulmonary stenosis, congenital inguinal hernia (1 individual).

This gene is associated with AR ?Mitochondrial complex I deficiency, nuclear type 30, OMIM:301021 (accessed 26th May 2026).; to: PMID: 41234160 Fiorini et al., 2025
Authors identified candidate causative variants in 31 patients from 23 unrelated families, with biallelic or hemizygous variants in 11 different nuclear Complex I related genes.

Family O - proband with hemizygous NDUFB11 variant c.276_278del p.(F93del) and insidious OA onset at 0-1yrs, optic nerve atrophy seen on MRI, temporal pallor on fundus exam, megaloblastic anaemia, abnormality of the gallbladder, and folate deficiency.

PMID: 27488349 Lichtenstein et al., 2016
Report of 5 males from 4 families with hemizygous NDUFB11 c.276_278del, p.F93del variant and congenital sideroblastic anemia. Method: WES. Heterozygous females were unaffected, X-inactivation skewing. Recurrent variant, confirmed de novo in one proband, and another proband's mother - posed to occur due to polymerase slipping. Variable syndromic features seen in addition to anemia: short stature (2 families), optic atrophy + DD (1 family), myopathy (2 families), lactic acidosis (1 individual); epilepsy, single kidney, pulmonary stenosis, congenital inguinal hernia (1 individual).

This gene is associated with XL ?Mitochondrial complex I deficiency, nuclear type 30, OMIM:301021 (accessed 26th May 2026).
Optic neuropathy v6.17 NDUFB11 Ida Ertmanska Phenotypes for gene: NDUFB11 were changed from Optic neuropathy, optic atrophy; LHON-like to ?Mitochondrial complex I deficiency, nuclear type 30, OMIM:301021
Optic neuropathy v6.16 NDUFB11 Ida Ertmanska Publications for gene: NDUFB11 were set to PMID: 41234160
Optic neuropathy v6.15 NDUFB11 Ida Ertmanska Classified gene: NDUFB11 as Amber List (moderate evidence)
Optic neuropathy v6.15 NDUFB11 Ida Ertmanska Added comment: Comment on list classification: There are now 3 male individuals from 2 families reported with hemizygous NDUFB11 variants and optic atrophy. Hence, this gene can only be rated Amber with the current evidence.
Optic neuropathy v6.15 NDUFB11 Ida Ertmanska Gene: ndufb11 has been classified as Amber List (Moderate Evidence).
Optic neuropathy v6.14 NDUFB11 Ida Ertmanska edited their review of gene: NDUFB11: Changed publications to: 27488349, 41234160
Optic neuropathy v6.14 NDUFB11 Ida Ertmanska changed review comment from: PMID: 41234160 Fiorini et al., 2025
Authors identified candidate causative variants in 31 patients from 23 unrelated families, with biallelic or hemizygous variants in 11 different nuclear Complex I related genes.

Family O - proband with hemizygous NDUFB11 variant c.276_278del p.(F93del) and insidious OA onset at 0-1yrs, optic nerve atrophy seen on MRI, temporal pallor on fundus exam, megaloblastic anaemia, abnormality of the gallbladder, and folate deficiency.

This gene is associated with AR ?Mitochondrial complex I deficiency, nuclear type 30, OMIM:301021 (accessed 26th May 2026).; to: PMID: 41234160 Fiorini et al., 2025
Authors identified candidate causative variants in 31 patients from 23 unrelated families, with biallelic or hemizygous variants in 11 different nuclear Complex I related genes.

Family O - proband with hemizygous NDUFB11 variant c.276_278del p.(F93del) and insidious OA onset at 0-1yrs, optic nerve atrophy seen on MRI, temporal pallor on fundus exam, megaloblastic anaemia, abnormality of the gallbladder, and folate deficiency.

PMID: 27488349 Lichtenstein et al., 2016
Report of 5 males from 4 families with hemizygous NDUFB11 c.276_278del, p.F93del variant and congenital sideroblastic anemia. Method: WES. Heterozygous females were unaffected, X-inactivation skewing. Recurrent variant, confirmed de novo in one proband, and another proband's mother - posed to occur due to polymerase slipping. Variable syndromic features seen in addition to anemia: short stature (2 families), optic atrophy + DD (1 family), myopathy (2 families), lactic acidosis (1 individual); epilepsy, single kidney, pulmonary stenosis, congenital inguinal hernia (1 individual).

This gene is associated with AR ?Mitochondrial complex I deficiency, nuclear type 30, OMIM:301021 (accessed 26th May 2026).
Optic neuropathy v6.14 NDUFB11 Ida Ertmanska reviewed gene: NDUFB11: Rating: AMBER; Mode of pathogenicity: None; Publications: 41234160; Phenotypes: ?Mitochondrial complex I deficiency, nuclear type 30, OMIM:301021; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Optic neuropathy v5.26 NDUFB11 Neringa Jurkute gene: NDUFB11 was added
gene: NDUFB11 was added to Optic neuropathy. Sources: Literature,Research
Mode of inheritance for gene: NDUFB11 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: NDUFB11 were set to PMID: 41234160
Phenotypes for gene: NDUFB11 were set to Optic neuropathy, optic atrophy; LHON-like
Mode of pathogenicity for gene: NDUFB11 was set to Other
Review for gene: NDUFB11 was set to GREEN
Added comment: Recently accepted publication "Recessive variants in mitochondrial Complex I nuclear subunits are an underrated cause of optic atrophy" reports Complex I genes, which pathogenic defects lead to optic atrophy; LHON-like phenotypes.
1 family were carrying NDUFB11 pathogenic variant and affected individual was diagnoses with optic neuropathy

Defects in core CI subunits in reported cohort lead to isolated optic atrophy, while defects in accessory CI subunits and assembly factors resulted in a spectrum of phenotypes, from isolated to syndromic optic atrophy. For 12 cases, the subacute onset of vision loss enabled us to associate or confirm novel genes (NDUFS7, NDUFV1, NDUFAF2, NDUFAF4, NDUFAF8) with the autosomal recessive Leber Hereditary Optic Neuropathy (arLHON) phenotype. Moreover, in the NDUFS7 subunit a partial spatial segregation was noted for missense variants causing either Leigh syndrome or isolated optic atrophy, hinting at possible disease-specific molecular defect.
Sources: Literature, Research