Identification of 22q11.2 deletion in a patient with schizophrenia and clinically diagnosed Rubinstein-Taybi syndrome.

Autor: Nagai Y; Department of Psychiatry Juntendo University School of Medicine Tokyo Japan.; Department of Psychiatry Juntendo Tokyo Koto Geriatric Medical Center Tokyo Japan., Nishioka M; Department of Psychiatry Juntendo University School of Medicine Tokyo Japan.; Department of Psychiatry Juntendo University Hospital Tokyo Japan., Tanaka T; Department of Psychiatry Juntendo University School of Medicine Tokyo Japan.; Department of Psychiatry Juntendo University Koshigaya Hospital Koshigaya Japan., Shimano T; Department of Psychiatry Nakamura Hospital Yoshikawa Japan., Kirino E; Department of Psychiatry Juntendo University School of Medicine Tokyo Japan.; Department of Psychiatry Juntendo University Shizuoka Hospital Izunokuni Japan., Suzuki T; Department of Psychiatry Juntendo University School of Medicine Tokyo Japan.; Department of Psychiatry Juntendo University Koshigaya Hospital Koshigaya Japan., Kato T; Department of Psychiatry Juntendo University School of Medicine Tokyo Japan.; Department of Psychiatry Juntendo University Hospital Tokyo Japan.
Jazyk: angličtina
Zdroj: PCN reports : psychiatry and clinical neurosciences [PCN Rep] 2022 Jul 28; Vol. 1 (3), pp. e34. Date of Electronic Publication: 2022 Jul 28 (Print Publication: 2022).
DOI: 10.1002/pcn5.34
Abstrakt: Background: Rubinstein-Taybi syndrome (RTS) is a rare autosomal-dominant disease. Almost all cases are sporadic and attributed to de novo variant. Psychotic symptoms in RTS are rare and have been reported in only a few published cases. On the other hand, 22q11.2 deletion syndrome is the most common chromosomal microdeletion in humans. The 22q11.2 deletion is well recognized as a risk factor for schizophrenia. Here, we present a schizophrenic psychosis case clinically diagnosed as RTS but resolved as carrying 22q11.2 deletion by genomic analysis.
Case Presentation: A 38-year-old Japanese male was admitted to our hospital due to psychotic symptoms. He had been diagnosed with RTS based on physical characteristics at the age of 9 months. On admission, we performed whole exome sequencing. He had no pathogenic variant in CREBBP or EP300 . We detected 2.5 Mb deletion on 22q11.2 and one rare loss-of-function variant in a loss-of-function-constrained gene ( MTSS1 ) and three rare missense variants in missense-constrained genes ( CELSR3 , HERC1 , and TLN1 ). Psychotic symptoms were ameliorated by the treatment of risperidone.
Conclusion: The psychiatric manifestation and genomic analysis may be a clue to detecting 22q11.2 deletion syndrome in undiagnosed patients. The reason for similarity in physical characteristics in 22q11.2 deletion syndrome and RTS remains unresolved. The 22q11.2 deletion and HERC1 contribute to the patient's phenotype.
Competing Interests: The authors declare no conflict of interest.
(© 2022 The Authors. Psychiatry and Clinical Neurosciences Reports published by John Wiley & Sons Australia, Ltd on behalf of Japanese Society of Psychiatry and Neurology.)
Databáze: MEDLINE
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