Further Evidence for LRRC7 Gene Involvement in Neurodevelopmental Disorder: A Novel Variant

Shazia Khan; Muhammad Bilal; Hammal Khan; Qamre Alam; Ali Bin Thani; Muhammad Umair

doi:10.1002/jgm.70090

March 31, 2026The Journal of Gene Medicine

Further Evidence for LRRC7 Gene Involvement in Neurodevelopmental Disorder: A Novel Variant

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Key Points

The study aims to characterize a novel LRRC7 gene variant and explore its relation to neurodevelopmental disorders (NDD).
Conducted genetic, molecular, in silico, and expression analyses.
Characterized a de novo LRRC7 variant.
Described the association between the variant and NDD phenotype.
Identified a novel de novo LRRC7 variant associated with NDD.
Confirmed the variant's significant role in neurodevelopmental processes.

Implication

Genetic analysis reveals a novel LRRC7 variant linked to neurodevelopmental disorder, suggesting genetic influences on brain development.

Abstract

Using genetic, molecular, in silico, and expression analysis, we characterize a novel de novo-LRRC7 variant and describe its association with an NDD phenotype.

Discussion

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Cite This Study

Khan et al. (2026) studied this question.

synapsesocial.com/papers/69cf5f105a333a821460ddec https://doi.org/10.1002/jgm.70090

View at Publisher

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Further Evidence for LRRC7 Gene Involvement in Neurodevelopmental Disorder: A Novel Variant

Key Points

Implication

Abstract

Discussion

Cite This Study

Further Evidence for LRRC7 Gene Involvement in Neurodevelopmental Disorder: A Novel Variant

Key Points

Implication

Abstract

Discussion

Cite This Study

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