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  • Title: Integrated omics analyses clarifies ATRX copy number variant of uncertain significance.
    Author: Marshall AE, Liang Y, Couse M, McConkey H, Care4Rare Canada Consortium, Sadikovic B, Boycott KM, Dyment DA, Kernohan KD.
    Journal: J Hum Genet; 2024 Feb; 69(2):101-105. PubMed ID: 37904029.
    Abstract:
    Partial duplications of genes can be challenging to detect and interpret and, therefore, likely represent an underreported cause of human disease. X-linked dominant variants in ATRX are associated with Alpha-thalassemia/impaired intellectual development syndrome, X-linked (ATR-X syndrome), a clinically heterogeneous disease generally presenting with intellectual disability, hypotonia, characteristic facies, genital anomalies, and alpha-thalassemia. We describe an affected male with a de novo hemizygous intragenic duplication of ~43.6 kb in ATRX, detected by research genome sequencing following non-diagnostic clinical testing. RNA sequencing and DNA methylation episignature analyses were central in variant interpretation, and this duplication was subsequently interpreted as disease-causing. This represents the smallest reported tandem duplication within ATRX associated with disease. This case demonstrates the diagnostic utility of integrating multiple omics technologies, which can ultimately lead to a definitive diagnosis for rare disease patients.
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