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IEMbase 0425: LRPPRC-related Leigh syndrome with French-Canadian ethnicity

Scope

Field Value
IEMbase ID 425
Nosology 7.4.08.02
Gene LRPPRC
External IDs OMIM:220111; ORPHA:70472
Generated mapping UNMAPPED; low candidate Leigh_Syndrome.yaml
Candidate DisMech targets Leigh_Syndrome.yaml#French-Canadian
Review date 2026-07-07

IEMbase phenotype signal

IEMbase represents LRPPRC-related Leigh syndrome with French-Canadian ethnicity, abbreviated LSFC. It records autosomal recessive inheritance. The biochemical signal is markedly increased plasma lactate and low-to-normal glucose. Clinical rows include Leigh-like MRI lesions, developmental delay, psychomotor retardation, hypotonia, ataxia, encephalopathy, liver steatosis, feeding difficulty, failure to thrive, seizures, tremor, perinatal death, and mild facial dysmorphism with Saguenay/French-Canadian founder context.

DisMech phenotype coverage

The generated unmapped status is a false negative. Local Leigh_Syndrome.yaml has a French-Canadian subtype with MONDO congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, explicitly described as biallelic LRPPRC variants causing complex IV-deficient Leigh syndrome. The same file also has an LRPPRC genetic section linking biallelic LRPPRC variants to French-Canadian LSFC.

Local DisMech is stronger for the general Leigh syndrome pathophysiology and for placing LRPPRC in the complex IV/cytochrome c oxidase deficient Leigh branch. IEMbase adds a compact age-banded phenotype checklist, especially liver steatosis, dysmorphism, EEG burst-suppression, tremor, and founder-population clinical details.

Concordance and completeness

Judgement: false negative; resolve to Leigh_Syndrome.yaml#French-Canadian.

The resources agree on LRPPRC, autosomal recessive LSFC, French-Canadian / Saguenay-Lac-Saint-Jean context, complex IV-deficient Leigh syndrome, lactic acidosis, hypotonia, ataxia, encephalopathy, Leigh-like lesions, and early mortality risk.

Curation actions

  • Map this record to the French-Canadian subtype in Leigh_Syndrome.yaml.
  • Consider adding IEMbase's liver steatosis, EEG burst-suppression, dysmorphic features, tremor, and low/normal glucose prompts after source verification.
  • Preserve LSFC as a subtype within the broader Leigh syndrome entry unless a future split creates a dedicated LRPPRC LSFC file.