Article
Zygosity-Dependent Phenotypic Spectrum of RELN-Related Disorders: 10 New Patients and Genotype-Phenotype Correlations Across 48 Kindreds.
Human mutation - 1 Jan 2026
Biglari Sajjad, Rezaei Halimeh, Asadollahzadeh Elnaz, Asl Mohammad Salimi, Galehdari Hamid, Garshasbi Masoud, Esmaeilzadeh Emran, Khalesi Raziyeh, Jamali Payman, Parvini Farshid, Shariati Gholamreza, Chamanrou Niloofar, Saligheh Reza, Moghaddam Atefeh Sohanforooshan, Khorshid Hamid Reza Khorram, Shohani Sepideh, Nafar Samira, Eslahi Atieh, Lotfi Mojtaba, Bakhshoodeh Behnoosh, Hajizadeh Fatemeh, Abtahi Saeed, Jomehei Reza Gharaei, Vahidnezhad Hassan, Toosi Mehran Beiraghi, Heidari Morteza, Mirzadeh Hanieh, Mojarrad Majid, Sarband Mina Mohammadi, Karimiani Ehsan Ghayoor
Abstract excerpt
Variants in RELN lead to a range of neurodevelopmental phenotypes, from autosomal recessive lissencephaly with cerebellar hypoplasia (LCH) (LIS2) to autosomal dominant focal epilepsies. We carried out exome sequencing (ES) on 10 affected individuals from eight unrelated Iranian families with consanguinity. Nine distinct variants were identified: Four are novel; four had been deposited in ClinVar without a...
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- Humans
- Genetic Association Studies