What question did this study set out to answer?

This report aims to describe the behavioral and neuropsychological characteristics of an adult with Smith-Magenis Syndrome due to a new RAI1 mutation.

March 4, 2026Open Access

Behavioral Phenotype and Neuropsychological Profile of an Adult With Smith-Magenis Syndrome due to a Previously Unreported RAI1 Mutation: A Case Report.

Key Points

This report aims to describe the behavioral and neuropsychological characteristics of an adult with Smith-Magenis Syndrome due to a new RAI1 mutation.
Detailed clinical assessment of behavioral and neuropsychological profile
Review of genetic tests identifying RAI1 mutation
Comparison with established features of Smith-Magenis Syndrome
Identified a unique RAI1 mutation contributing to SMS symptoms
Observed distinct behavioral patterns typical of Smith-Magenis Syndrome
Highlighted the importance of recognizing SMS features for tailored clinical intervention

Abstract

Smith-Magenis Syndrome (SMS) is an uncommon genetic disorder caused by microdeletions of chromosome 17p11.2 including the RAI1 gene, or loss-of-function mutations that directly affect RAI1. Due to the involvement of RAI1 in neurodevelopment, SMS leads to typical pathologic features in the behavioral and physical phenotype that must be recognized by clinicians.

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Cite This Study

Chavarría‐Martínez et al. (Sun,) studied this question.

synapsesocial.com/papers/69a7cc4cd48f933b5eed7ea6 https://doi.org/https://doi.org/10.1002/ccr3.72114

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