A Novel CREBBP Gene Mutation in a Patient with a CREBBP-related Neurodevelopmental Disorder (P2-8.011)

Joshua Siebeneicher; Muhammad Khalid; Vijayakumar Javalkar; Sheila Asghar; Ammar Husan

doi:10.1212/wnl.0000000000215174

June 9, 2026Neurology

A Novel CREBBP Gene Mutation in a Patient with a CREBBP-related Neurodevelopmental Disorder (P2-8.011)

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Key Points

The aim is to present a novel pathogenic variant of the CREBBP gene associated with a neurodevelopmental disorder.
Case report of a patient with a CREBBP-related neurodevelopmental disorder.
Identification of the novel variant c.4283G>T (p.Arg1428Leu).
Comparison with known syndromes such as Rubinstein-Taybi and Menke-Hennekam.
Identification of a novel CREBBP gene mutation not previously associated with known syndromes.
The patient's symptoms were distinct from Rubinstein-Taybi syndrome and Menke–Hennekam syndrome.

Implication

Case report describes a new pathogenic CREBBP variant in an affected individual, suggesting distinct disorder implications.

Abstract

To describe a case of a novel pathogenic CREBBP variant c.4283G>T (p.Arg1428Leu) with CREBBP-related neurodevelopmental disorder, distinct from Rubinstein-Taybi syndrome (RSTS) and Menke–Hennekam syndrome (MHS).

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Cite This Study

Siebeneicher et al. (2026) studied this question.

synapsesocial.com/papers/6a2cf36efaef96ed7f055dc7 https://doi.org/10.1212/wnl.0000000000215174

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A Novel CREBBP Gene Mutation in a Patient with a CREBBP-related Neurodevelopmental Disorder (P2-8.011)

Key Points

Implication

Abstract

Discussion

Cite This Study

A Novel CREBBP Gene Mutation in a Patient with a CREBBP-related Neurodevelopmental Disorder (P2-8.011)

Key Points

Implication

Abstract

Discussion

Cite This Study

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