Article
Regulatory de novo mutations underlying intellectual disability.
Life science alliance - 1 May 2023
De Vas Matias G, Boulet Fanny, Joshi Shweta S, Garstang Myles G, Khan Tahir N, Atla Goutham, Parry David, Moore David, Cebola Inês, Zhang Shuchen, Cui Wei, Lampe Anne K, Lam Wayne W, Ferrer Jorge, Pradeepa Madapura M, Atanur Santosh S
Abstract excerpt
The genetic aetiology of a major fraction of patients with intellectual disability (ID) remains unknown. De novo mutations (DNMs) in protein-coding genes explain up to 40% of cases, but the potential role of regulatory DNMs is still poorly understood. We sequenced 63 whole genomes from 21 ID probands and their unaffected parents. In addition, we analysed 30 previously sequenced genomes from exome-negative ID...
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