Elif Poyraz, Sümeyye Firidin, Digdem Göverti, Berk Ulu, Alper Bülbül, Tolgahan Özer
Neuropsychiatric Investigation - 2025;63(1):1-4
Omodysplasia is an extremely rare short-limb skeletal dysplasia characterized by severe micromelic dwarfism with predominantly rhizomelic shortening of the upper and lower limbs. Type 1 omodysplasia, also known as autosomal recessive omodysplasia, is caused by a mutation in the GPC6 gene. This is the first case of a patient with schizophrenia genetically diagnosed with omodysplasia type 1. A 27-year-old, university graduate, bilingual, single white woman was brought to the emergency psychiatry clinic with psychomotor agitation, anxiety, persecutory delusions, and hallucinations. On the basis of the patient's background, she was diagnosed with omodysplasia type 1 in early childhood. In addition, she was diagnosed with schizophrenia 8 years ago. Informed consent was obtained from the patient and her mother, who had an advance directive. Schizophrenia is a neurodevelopmental disorder caused by both genetic and environmental factors. GPC6 is also associated with formal thought disorder (FTD), which is a common symptom of schizophrenia. GPC6 gene mutation in FTD is located on chromosome 13, such as that of autosomal recessive omodysplasia. Although this case could be coincidental, it may contribute to current genetic studies that have an important place in the etiology of schizophrenia.
