2019/02/19 by Sonal Saxena, Poornima Kkani, Chellamuthu Ramasubramanian +5 · 9 citations
Biochemistry, Genetics and Molecular Biology · Medicine · #Biology #Congenital heart defects research #Genetics #Genomic variations and chromosomal abnormalities #Glycosylation and Glycoproteins Research #Medicine #Psychiatry #Schizophrenia (object-oriented programming)
paper · doi:10.1111/ahg.12300
published in Annals of Human Genetics 83(3), 187-191 (Wiley)
openalex publication_date 2019/02/19 · openalex created_date 2025/10/10 · openalex updated_date 2026/05/21
Copy number variants (CNVs) of 15q11.2 yielded conflicting reports on their association with schizophrenia (SZ), indicating the need for replication studies. Because there are no 15q11.2 CNV studies on Indian patients, we began by testing 307 SZ patients and 359 age- and sex-matched controls from South India. Using an improved multiplex ligation probe amplification, six deletions were found in patients and three in controls (p = 0.31), whereas one duplication was found in patients and three in controls (p = 0.63). Analysis of families of two patients and two controls with deletions indicated that the mutations were de novo. In conclusion, there seems to be no significant difference in the frequencies of 15q11.2 CNVs among the controls and patients studied here. Future studies involving a larger number of controls and patients are expected to provide better clarity on the relationship between 15q11.2 CNVs and SZ patients from India.