Article
Incomplete penetrance for isolated congenital asplenia in humans with mutations in translated and untranslated RPSA exons.
Proceedings of the National Academy of Sciences of the United States of America - 21 Aug 2018
Bolze Alexandre, Boisson Bertrand, Bosch Barbara, Antipenko Alexander, Bouaziz Matthieu, Sackstein Paul, Chaker-Margot Malik, Barlogis Vincent, Briggs Tracy, Colino Elena, Elmore Aurora C, Fischer Alain, Genel Ferah, Hewlett Angela, Jedidi Maher, Kelecic Jadranka, Krüger Renate, Ku Cheng-Lung, Kumararatne Dinakantha, Lefevre-Utile Alain, Loughlin Sam, Mahlaoui Nizar, Markus Susanne, Garcia Juan-Miguel, Nizon Mathilde, Oleastro Matias, Pac Malgorzata, Picard Capucine, Pollard Andrew J, Rodriguez-Gallego Carlos, Thomas Caroline, Von Bernuth Horst, Worth Austen, Meyts Isabelle, Risolino Maurizio, Selleri Licia, Puel Anne, Klinge Sebastian, Abel Laurent, Casanova Jean-Laurent
Abstract excerpt
Isolated congenital asplenia (ICA) is the only known human developmental defect exclusively affecting a lymphoid organ. In 2013, we showed that private deleterious mutations in the protein-coding region of RPSA, encoding ribosomal protein SA, caused ICA by haploinsufficiency with complete penetrance. We reported seven heterozygous protein-coding mutations in 8 of the 23 kindreds studied, including 6 of the 8...
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