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

Our findings provide new molecular and clinical insights into the role of LINS1 in ARID, expanding the genetic landscape of ID. This discovery has significant implications for genetic counseling and prenatal diagnosis, aiding in the identification of at-risk couples.

Authors

Nafiseh Falsafi
Filippo Pinto e Vairo (ORCID: https://orcid.org/0000-0001-6030-1903)
Parham Nejati (ORCID: https://orcid.org/0000-0003-3290-5691)
Arash Salmaninejad (ORCID: https://orcid.org/0000-0001-6141-3915)
E. B. Klee
Elham Alimoradi
Mohamad Javad Alibakhshi
Reza Alibakhshi
Fatemeh Molavi

Institutions

Razi University (IR)
Mayo Clinic (US)
Guilan University of Medical Sciences (IR)
Kermanshah University of Medical Sciences (IR)
Shahid Beheshti University of Medical Sciences (IR)

Publication Details

Journal: Molecular Genetics & Genomic Medicine
Published: 2026-02-01
DOI: https://doi.org/10.1002/mgg3.70184
Primary Topic: Genomics and Rare Diseases
Type: article
Field-Weighted Citation Impact: 0.00

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article

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

Nafiseh Falsafi, Filippo Pinto e Vairo, Parham Nejati, Arash Salmaninejad et al.

Feb 1, 2026

Molecular Genetics & Genomic Medicine

Genomics and Rare Diseases

article

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

Nafiseh Falsafi, Filippo Pinto e Vairo, Parham Nejati, Arash Salmaninejad, E. B. Klee, Elham Alimoradi, Mohamad Javad Alibakhshi, Reza Alibakhshi, Fatemeh Molavi

February 1, 2026article en

Abstract

Our findings provide new molecular and clinical insights into the role of LINS1 in ARID, expanding the genetic landscape of ID. This discovery has significant implications for genetic counseling and prenatal diagnosis, aiding in the identification of at-risk couples.

Molecular Genetics & Genomic MedicineVol. 14(2)

Razi University (IR), Mayo Clinic (US), Guilan University of Medical Sciences (IR), Kermanshah University of Medical Sciences (IR), Shahid Beheshti University of Medical Sciences (IR)

Gender equality

Openalex Percentile: Top 60%

Genomics and Rare Diseases

DOI Open Access PDF OpenAlex

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Identification of a Novel Missense Homozygous Variant in <i>LINS1</i> in Two Distinct Iranian Families With Consanguineous Marriage — Nafiseh Falsafi, Filippo Pinto e Vairo, et al. · Molecular Genetics & Genomic Medicine (2026) | TGRS Research Map | TGRS