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Article

Novel Biallelic LIG3 Mutations Causing Lethal Phenotype With Immunodeficiency.

American journal of medical genetics. Part A - 1 Jul 2026

Kilich Gonench, Jadhav Tanaya, Maurer Kelly, Breen Christopher, Jammihal Tejas, Schindewolf Erica, Ganetzky Rebecca D, Vanderver Adeline, Skraban Cara, Rajagopalan Ramakrishnan, Sullivan Kathleen E

Abstract excerpt

Pathogenic, biallelic variants in LIG3 are known to cause Mitochondrial DNA Depletion syndrome 20 with variable expression and severity. We describe a child with progressive encephalopathy, cataracts, movement disorder, endocrine dysfunction, and immunodeficiency who remained undiagnosed despite multiple negative clinical genomic diagnostic studies. Research reanalysis of PacBio long-read genome sequencing data...

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Source

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Identifiers

PMID: 41741356
DOI: 10.1002/ajmg.a.70104
PMCID: PMC13135246

Genes

LIG3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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