What question did this study set out to answer?

To present a case of a rare neurodevelopmental disorder linked to a variant in the AUTS2 gene.

June 18, 2026CureusOpen Access

AUTS2 Gene Variant Causing Intellectual Developmental Disorder, Autosomal Dominant 26 (MRD26): A Report of a Paediatric Case From the Arabian Peninsula

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Authors

ZAZubaida AldoseriMilitary Hospital BHBabaker HassanMilitary Hospital

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Implication

Case report highlights a rare AUTS2 gene variant causing intellectual developmental disorder in a child, suggesting early diagnosis key for management.

Key Points

To present a case of a rare neurodevelopmental disorder linked to a variant in the AUTS2 gene.
Whole-exome sequencing conducted to identify genetic variants.
Patient evaluated for developmental milestones and physical features.
Clinical history gathered from consanguineous parents.
A heterozygous pathogenic variant in the AUTS2 gene confirmed the diagnosis of MRD26.
The patient exhibited global developmental delay, dysmorphic features, and recurrent infections.
This is the first reported MRD26 case from the Arabian Peninsula, adding to the phenotypic database.

Cite This Study

Aldoseri et al. (2026) studied this question.

synapsesocial.com/papers/6a338cf6630953a74978e09a https://doi.org/10.7759/cureus.110944

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Implication

Case report highlights a rare AUTS2 gene variant causing intellectual developmental disorder in a child, suggesting early diagnosis key for management.

AUTS2 Gene Variant Causing Intellectual Developmental Disorder, Autosomal Dominant 26 (MRD26): A Report of a Paediatric Case From the Arabian Peninsula

Discussion

Member takes

Implication

Key Points

Cite This Study

AUTS2 Gene Variant Causing Intellectual Developmental Disorder, Autosomal Dominant 26 (MRD26): A Report of a Paediatric Case From the Arabian Peninsula

Discussion

Member takes

Implication

Key Points

Cite This Study

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