A genome-wide scan for a locus responsible for exploratory eye movement (EEM), which is quantitative and can be disturbed in association with schizophrenia, was performed. A 10-cM resolution genome-wide linkage analysis of the EEM disturbance with 358 highly polymorphic microsatellite markers in 38 nuclear families with 122 members (38 probands, 47 sibs, and 37 parents) including 58 sib-pairs yielded the suggestive linkage to the GCT10C10 marker on chromosome 22q11.2 (LOD = 2.48). Dense mapping with additional markers around the GCT10C10 marker yielded evidence for significant linkage between EEM disturbance and markers D22S429 and D22S310 on chromosome 22q12.1 (LOD score of 4.63) with suggestive evidence for the chromosome region 22q11.2-q12.1. Our findings suggest that a relatively small number of loci may control the schizophrenia-related quantitative EEM trait. We believe that identifying gene(s) on chromosome 22q associated with the EEM phenotype may forward our understanding of the etiology of schizophrenia.
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http://dx.doi.org/10.1002/ajmg.b.10046 | DOI Listing |
Can J Psychiatry
December 2024
The Centre for Addiction and Mental Health, Toronto, Ontario, Canada.
Objective: One in every 4 individuals born with a 22q11.2 microdeletion will develop schizophrenia. Thirty years of clinical genetic testing capability have enabled detection of this major molecular susceptibility for psychotic illness.
View Article and Find Full Text PDFNature
December 2024
Department of Systems Biology, University of Texas MD Anderson Cancer Center, Houston, TX, USA.
Aneuploid epithelial cells are common in breast cancer; however, their presence in normal breast tissues is not well understood. To address this question, we applied single-cell DNA sequencing to profile copy number alterations in 83,206 epithelial cells from the breast tissues of 49 healthy women, and we applied single-cell DNA and assay for transposase-accessible chromatin sequencing co-assays to the samples of 19 women. Our data show that all women harboured rare aneuploid epithelial cells (median 3.
View Article and Find Full Text PDFInt J Surg Pathol
November 2024
Geisel School of Medicine at Dartmouth, Hanover, NH, USA.
Mol Autism
September 2024
Department of Biomedical Informatics, Harvard Medical School, Boston, MA, 02115, USA.
Laryngoscope
September 2024
22q and You Center, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, U.S.A.
Objectives: Hearing loss is considered common in children with 22q11.2 deletion syndrome (22q11.2DS), with a few prior studies reporting a 32%-78% prevalence; mild-moderate conductive hearing loss has been reported most commonly.
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