Bi-allelic variants in NRDC cause a neurodevelopmental disorder characterized by neonatal lethality, microcephaly, and brain abnormalities.

doi:10.1016/j.ajhg.2026.01.017

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Article

Bi-allelic variants in NRDC cause a neurodevelopmental disorder characterized by neonatal lethality, microcephaly, and brain abnormalities.

American journal of human genetics - 5 Mar 2026

Pehlivan Davut, Sandoval Abigail, Maroofian Reza, Lecoquierre François, Al Shamsi Aisha M, Lee Gyu S, Yesilbas Osman, Taylor Preston, McDougal Matthew B, Bahrambeigi Vahid, Aryani Omid, Ramirez Juan Felipe, Salih Khalid Hama, Al Alam Chadi, Morsy Heba, Hussien Haytham, Omar Tarek, Abdelrazek Ibrahim M, Brehin Anne Claire, Marafi Dana, Kalayci Tugba, Rahma Jubran Abu, Talbeya Jawabreh Kassem, Dabbah Husein, Verspyck Eric, Moosavian Toktam, Fatih Jawid M, Mitani Tadahiro, Akay Gulsen, Calame Daniel G, Guerrot Anne-Marie, Chung Wendy K, Houlden Henry, Lupski James R, Shalata Adel, Yoon Wan Hee

Abstract excerpt

Nardilysin (NRDC) plays a role in multiple cellular functions in diverse cellular compartments, including ectodomain shedding in the plasma membrane, as well as chaperoning a key Krebs cycle enzyme in mitochondria. We had previously reported limited clinical information from two individuals with homozygous frameshift variants in NRDC. With inclusion of previously published individuals, here we report 14...

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PMID: 41734767
DOI: 10.1016/j.ajhg.2026.01.017
PMCID: PMC13087469

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NRDC

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

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