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Biallelic Variant in NRDC Gene in Two Siblings With Developmental Delay and Seizures
Fatemeh Fatehi1, Zeinab Ghorbanoghli1, Mahdieh Kooshki1
1Kariminejad-Najmabadi Pathology & Genetics Center, Tehran, Iran.
None:
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 neurodevelopmental disorders. Our findings expand the phenotypic spectrum and support a potential role for NRDC in severe neurodevelopmental delay.
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