Identification of a Novel Missense Homozygous Variant in LINS1 in Two Distinct Iranian Families With Consanguineous Marriage

Elham Alimoradi,Parham Nejati,Arash Salmaninejad,Nafiseh Falsafi,Fateme Molavi,Mohamad Javad Alibakhshi,F. Vairo,Eric W. Klee,Reza Alibakhshi

Published 2026 in Molecular Genetics & Genomic Medicine

ABSTRACT

LINS1, the human homolog of the Drosophila segment polarity gene, encodes a key regulator of the Wingless/Wnt signaling pathway. While numerous genes have been implicated in intellectual disability (ID), only a limited number have been conclusively associated with autosomal recessive intellectual disability (ARID). Variants in LINS1 have been identified as one such cause.

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