LONP1 Variants Are Associated With Clinically Diverse Phenotypes.

doi:10.1111/cge.70057

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Article

LONP1 Variants Are Associated With Clinically Diverse Phenotypes.

Clinical genetics - 1 Mar 2026

Young Randee E, Qiao Lu, Hernan Rebecca, Sweetser David A, Waxler Jessica L, Scott Daryl A, Scott Tiana M, Lalani Seema R, Azamian Mahshid S, Rosenfeld Jill A, Bostwick Bret, Burrage Lindsay C, Rodan Lance H, Russell Bianca E, Dutra-Clarke Marina, Kruer Michael, Bakhtiarim Somayeh, Darvish Hossein, Amor David J, Rahman Shamima, Stals Karen, Bradley Lisa, Byrne Susan, Tolusso Leandra K, Wong Beatrix, Benedict Laura, Wallis Kimberly, Micke Kestutis, Colson Cindy, Smol Thomas, Southwick Sabrina V, Miller Kristen A, Kush Michelle L, Chorin Odelia, Rothschild Annick, Wang Wei, Shen Yufeng, Chung Wendy K

Abstract excerpt

LONP1 encodes a mitochondrial protease essential for protein quality control and metabolism. Variants in LONP1 are associated with a diverse and expanding spectrum of disorders, including Cerebral, Ocular, Dental, Auricular, and Skeletal anomalies syndrome (CODAS), congenital diaphragmatic hernia (CDH), and neurodevelopmental disorders (NDD), with some individuals exhibiting features of mitochondrial...

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Source

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Identifiers

PMID: 40931319
DOI: 10.1111/cge.70057
PMCID: PMC13261574

Genes

LONP1

Provenance

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

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