Article
DNAJC21 Mutations Link a Cancer-Prone Bone Marrow Failure Syndrome to Corruption in 60S Ribosome Subunit Maturation.
American journal of human genetics - 7 Jul 2016
Tummala Hemanth, Walne Amanda J, Williams Mike, Bockett Nicholas, Collopy Laura, Cardoso Shirleny, Ellison Alicia, Wynn Rob, Leblanc Thierry, Fitzgibbon Jude, Kelsell David P, van Heel David A, Payne Elspeth, Plagnol Vincent, Dokal Inderjeet, Vulliamy Tom
Abstract excerpt
A substantial number of individuals with bone marrow failure (BMF) present with one or more extra-hematopoietic abnormality. This suggests a constitutional or inherited basis, and yet many of them do not fit the diagnostic criteria of the known BMF syndromes. Through exome sequencing, we have now identified a subgroup of these individuals, defined by germline biallelic mutations in DNAJC21 (DNAJ homolog subfamily...
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