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Article

Expanding the genetic spectrum of neurogenetic disorders in moroccan families by exome sequencing: identification of candidate variants in RYR3, POLR3A, and LAMA2.

Molecular biology reports - 11 May 2026

Chentoufi Fatima Ezzahra, Idyahia Assia, Toure Madoussou, El Hamouchi Adil, Barakat Abdelhamid, Benrahma Houda, Charoute Hicham

Abstract excerpt

BACKGROUND: The diagnosis of neurogenetic disorders is often prolonged due to clinical variability and significant genetic heterogeneity, making molecular diagnosis challenging. This study aimed to investigate the molecular basis of rare inherited neurological conditions in three consanguineous Moroccan families. METHODS: We performed Whole exome sequencing (WES) on probands from three unrelated consanguineous...

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Identifiers

PMID: 42113100
DOI: 10.1007/s11033-026-11900-0

Genes

LAMA2
POLR3A
RYR3

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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