8q22.1 Microduplication Syndrome: Why the Brain Should Be Spared? A Literature Review and a Case Report

Abstract

Microduplication of chromosome 8q22.1 is mainly associated to Leri's pleonosteosis syndrome phenotype, an extremely rare autosomal dominant disease encompassing the GDF6 and SDC2 genes. To date, most of the authors focus their attention only on skeletal symptoms of the disease, and they do not systematically research or describe the co-occurrence of psychiatric illnesses or mental disorders with these muscular-skeletal diseases. In this report, we provide a description of an 8-year-old girl, with a positive family history for both skeletal malformations and bipolar disorders (BD). We suggest a possible association between Leri's pleonosteosis features and psychiatric symptoms. Furthermore, our report could be added to the large amount of reports that describe the correlation between genetic regions and disease risk for both psychiatric and rheumatological disorders.

An integrated multi-omics analysis identifies prognostic molecular subtypes of non-muscle-invasive bladder cancer

“…Specifically, we observed partial or complete loss of chromosome 9 in 53% (251/473; CDKN2A loci) of tumors, and amplification of 8q22.1 in 22% of tumors (103/473; GDF6 and SDC2 loci). Genes in the affected 8q22.1 loci may be involved in the dysregulation of extracellular matrix synthesis and transforming growth factor (TGF)-β pathway 36 . Other frequently altered genomic areas included gains of 1q (16%), 8q (14%; including MYC ), 5p (11%; including TERT ), 20q (11%) and 20p (9.3%), and losses on 8p (16%), 11p (14%), 17p (13%; including TP53 ) and 18q (8.2%).…”

An integrated multi-omics analysis identifies clinically relevant molecular subtypes of non-muscle-invasive bladder cancer

“…The distribution of clinicopathological parameters and molecular variables between the genomic classes is shown in Fig 2A. Specifically, we observed partial or complete loss of chromosome 9 in 53% (251/473; CDKN2A loci) of tumors, and amplification of 8q22.1 in 22% of tumors (103/473; GDF6 and SDC2 loci). Genes in the affected 8q22.1 loci may be involved in the dysregulation of extracellular matrix synthesis and transforming growth factor (TGF)-β pathway 32 . Other frequently altered genomic areas included gains of 1q (16%), 8q (14%; including MYC), 5p (11%; including TERT), 20q (11%) and 20p (9.3%), and losses on 8p (16%), 11p (14%), 17p (13%; including TP53) and 18q (8.2%).…”