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Biallelic Variant in NRDC Gene in Two Siblings With Developmental Delay and Seizures.

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

Fatehi Fatemeh, Ghorbanoghli Zeinab, Kooshki Mahdieh, Najafabadi Shima Zamanian, Noudehi Khadijeh, Amooian Sepideh, Taghiloo Aidin, Makvand Mina, Najmabadi Hossein, Kariminejad Ariana

Abstract excerpt

We report a biallelic likely pathogenic variant in the NRDC gene in two Iranian siblings with developmental delay, microcephaly, hypotonia, seizures, and absent speech. Exome sequencing (ES) identified a frameshift deletion in exon 15 of NRDC (NM_001101662.2): c.1702_1703del (p.Met568Valfs*2), confirmed to segregate with disease in the family. This is the second report implicating biallelic NRDC gene variants in...

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Identifiers

PMID: 41449824
DOI: 10.1002/ajmga.70039

Genes

NRDC

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