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Incomplete penetrance for isolated congenital asplenia in humans with mutations in translated and untranslated RPSA exons

Abstract:

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 multiplex kindreds. We have since enrolled 33 new kindreds, 5 of which are multiplex....

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Publication status:
Published
Peer review status:
Peer reviewed

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Publisher copy:
10.1073/pnas.1805437115

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Grant:
theNationalCenterforAdvancingSciences,Grant8UL1TR001866
NationalCenterforResearch Resources
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Grant:
Integrative Biology of Emerging Infectious Diseases Laboratory of Excellence Grant ANR-10-LABX-62-IBEID
St. Giles Foundation More from this funder
Publisher:
National Academy of Sciences Publisher's website
Journal:
Proceedings of the National Academy of Sciences Journal website
Volume:
115
Issue:
34
Pages:
E8007-E8016
Publication date:
2018-08-02
Acceptance date:
2018-07-02
DOI:
EISSN:
1091-6490
ISSN:
0027-8424
Pmid:
30072435
Language:
English
Keywords:
Pubs id:
pubs:896585
UUID:
uuid:8ccdba3e-046b-41e1-a0ed-28363edfec95
Local pid:
pubs:896585
Source identifiers:
896585
Deposit date:
2018-08-07

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