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Article

Loss of coordinated expression between ribosomal and mitochondrial genes revealed by comprehensive characterization of a large family with a rare Mendelian disorder.

Genomics - 1 Jul 2021

Panici Brendan, Nakajima Hosei, Carlston Colleen M, Ozadam Hakan, Cenik Can, Cenik Elif Sarinay

Abstract excerpt

Non-canonical intronic variants are a poorly characterized yet highly prevalent class of alterations associated with Mendelian disorders. Here, we report the first RNA expression and splicing analysis from a family whose members carry a non-canonical splice variant in an intron of RPL11 (c.396 +3A>G). This mutation is causative for Diamond Blackfan Anemia (DBA) in this family despite incomplete penetrance and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 33862179
DOI: 10.1016/j.ygeno.2021.04.020
PMCID: PMC8266734

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