Autosomal Recessive Omodysplasia (GPC6-Related) with Treatment-Resistant Schizophrenia

Abstract

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.

Cite this article as: Poyraz E, Firidin S, Göverti D, Ulu B, Bülbül A, Özer T. Autosomal recessive omodysplasia (GPC6-related)
with treatment-resistant schizophrenia. Neuropsychiatr Invest. 2025, 63, 0015, doi:10.5152/
NeuropsychiatricInvest.2025.25015.