Biallelic Variant in <scp> <i>NRDC</i> </scp> Gene in Two Siblings With Developmental Delay and Seizures

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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Publication Details

Journal
American Journal of Medical Genetics Part A
Published
2025-12-25
DOI
https://doi.org/10.1002/ajmga.70039
Primary Topic
Genomics and Rare Diseases
Type
article
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article

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

Fatemeh Fatehi, Mina Makvand, H Najmabadi, Ariana kariminejad et al.
American Journal of Medical Genetics Part A
Genomics and Rare Diseases
article

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

Fatemeh Fatehi, Mina Makvand, H Najmabadi, Ariana kariminejad, Aidin Taghiloo, Zeinab Ghorbanoghli, Khadijeh Noudehi, Shima Zamanian Najafabadi, Mahdieh Kooshki, Sepideh Amooian
article en

Abstract

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.

American Journal of Medical Genetics Part A
Golestan University of Medical Sciences (IR), Day General Hospital (IR), University of Social Welfare and Rehabilitation Sciences (IR), Gorgan University of Agricultural Sciences and Natural Resources (IR)
Openalex Percentile: Top 25%
Genomics and Rare Diseases
DOISourceOpenAlex
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Biallelic Variant in <scp> <i>NRDC</i> </scp> Gene in Two Siblings With Developmental Delay and Seizures — Fatemeh Fatehi, Mina Makvand, et al. · American Journal of Medical Genetics Part A (2025) | TGRS Research Map | TGRS