Personalized Treatment in Rare Genetic Syndromes: A Case-Report in Witteveen-Kolk Syndrome (SIN3A).

ABSTRACT:

Introduction

Neurodevelopmental disorders (NDDs) include a broad spectrum of disorders. NDDs caused by rare gene mutations are referred to as Rare Genetic Neurodevelopmental Syndromes (RGNS). Witteveen-Kolk syndrome (WITKOS) is such a RGNS, caused by heterozygous mutations in SIN3A and characterized by developmental problems, facial dysmorphisms, short stature, brain abnormalities, intellectual disability, and behavioral problems. Care for individuals with WITKOS mainly focuses on somatic characteristics. To address this issue, we present a case study of the first documented treatment of behavioral problems in WITKOS.

Case presentation

The patient is a 27-year-old single female with known developmental problems during childhood and a history of severe psychiatric problems. S

SUBMITTER: Janssen V 

PROVIDER: S-EPMC12618042 | biostudies-literature | 2025 Oct

REPOSITORIES: biostudies-literature