Clinical Exome Sequencing as a Key Diagnostic Tool: A Rare de novo TRIO Variant in Dizygotic Twins

These findings highlight the diagnostic value of CES in rare neurodevelopmental disorders and suggest a plausible but unproven parental germline or early postzygotic mosaic event, while acknowledging alternative explanations.

Authors

Maryem Sahli (ORCID: https://orcid.org/0000-0002-7333-2052)
Mouna Ouhenach (ORCID: https://orcid.org/0000-0001-7563-0099)
Abdelaziz Sefiani (ORCID: https://orcid.org/0000-0003-1921-5215)
Nada Amllal (ORCID: https://orcid.org/0000-0003-2757-5448)
Hicham Bouchahta
Laila Sbabou

Institutions

Mohammed V University (MA)
Institut National d'Hygiène du Maroc (MA)

Publication Details

Journal: Molecular Syndromology
Published: 2026-01-06
DOI: https://doi.org/10.1159/000550323
Primary Topic: Genomics and Rare Diseases
Type: article
Field-Weighted Citation Impact: 0.00

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article

Clinical Exome Sequencing as a Key Diagnostic Tool: A Rare de novo TRIO Variant in Dizygotic Twins

Maryem Sahli, Mouna Ouhenach, Abdelaziz Sefiani, Nada Amllal et al.

Jan 6, 2026

Molecular Syndromology

Genomics and Rare Diseases

article

Clinical Exome Sequencing as a Key Diagnostic Tool: A Rare de novo TRIO Variant in Dizygotic Twins

Maryem Sahli, Mouna Ouhenach, Abdelaziz Sefiani, Nada Amllal, Hicham Bouchahta, Laila Sbabou

January 6, 2026article en

Abstract

These findings highlight the diagnostic value of CES in rare neurodevelopmental disorders and suggest a plausible but unproven parental germline or early postzygotic mosaic event, while acknowledging alternative explanations.

Molecular Syndromology

Mohammed V University (MA), Institut National d'Hygiène du Maroc (MA)

Good health and well-being

Openalex Percentile: Top 94%

Genomics and Rare Diseases

DOI Source OpenAlex

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