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Autor
Al-Raqad, Mohammed 1 Amor, David J 1 Balci, Tugce B 1 Baxová, Alice 1 Bendová, Šárka 1 Bi, Weimin 1 Biamino, Elisa 1 Brusco, Alfredo 1 Caluseriu, Oana 1 Chowdhury, Fuad 1 Cox, Nancy J 1 Froukh, Tawfiq 1 Gunay-Aygun, Meral 1 Hančárová, Miroslava 1 Haynes, Devon 1 Heide, Solveig 1 Hoganson, George 1 Kaname, Tadashi 1 Kawakami, Koichi 1 Keren, Boris 1
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Pracoviště
Al Balqa Applied University Faculty o... 1 Baylor Genetics Laboratory Houston TX... 1 Center for Medical Genetics Keio Univ... 1 Children's Health Research Institute ... 1 Department of Biology and Medical Gen... 1 Department of Biology and Medical Gen... 1 Department of Biotechnology and Genet... 1 Department of Genetic Medicine Johns ... 1 Department of Genetics University of ... 1 Department of Genome Medicine Nationa... 1 Department of Medical Genetics Mercyh... 1 Department of Medical Genetics Osaka ... 1 Department of Medical Genetics Univer... 1 Department of Medical Sciences Univer... 1 Department of Molecular and Human Gen... 1 Department of Paediatrics Schulich Sc... 1 Department of Pediatrics Division of ... 1 Department of Pediatrics Division of ... 1 Department of Pediatrics Gifu Univers... 1 Department of Pediatrics McGovern Med... 1
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Autor
Al-Raqad, Mohammed 1 Amor, David J 1 Balci, Tugce B 1 Baxová, Alice 1 Bendová, Šárka 1 Bi, Weimin 1 Biamino, Elisa 1 Brusco, Alfredo 1 Caluseriu, Oana 1 Chowdhury, Fuad 1 Cox, Nancy J 1 Froukh, Tawfiq 1 Gunay-Aygun, Meral 1 Hančárová, Miroslava 1 Haynes, Devon 1 Heide, Solveig 1 Hoganson, George 1 Kaname, Tadashi 1 Kawakami, Koichi 1 Keren, Boris 1
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Pracoviště
Al Balqa Applied University Faculty o... 1 Baylor Genetics Laboratory Houston TX... 1 Center for Medical Genetics Keio Univ... 1 Children's Health Research Institute ... 1 Department of Biology and Medical Gen... 1 Department of Biology and Medical Gen... 1 Department of Biotechnology and Genet... 1 Department of Genetic Medicine Johns ... 1 Department of Genetics University of ... 1 Department of Genome Medicine Nationa... 1 Department of Medical Genetics Mercyh... 1 Department of Medical Genetics Osaka ... 1 Department of Medical Genetics Univer... 1 Department of Medical Sciences Univer... 1 Department of Molecular and Human Gen... 1 Department of Paediatrics Schulich Sc... 1 Department of Pediatrics Division of ... 1 Department of Pediatrics Division of ... 1 Department of Pediatrics Gifu Univers... 1 Department of Pediatrics McGovern Med... 1
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Plný text - Článek
Health & Medicine (ProQuest) od 2011-01-01 do 2021-12-31
ROAD: Directory of Open Access Scholarly Resources od 1998
PubMed
33824499
DOI
10.1038/s41436-021-01129-6
Knihovny.cz E-zdroje
PURPOSE: Proline Rich 12 (PRR12) is a gene of unknown function with suspected DNA-binding activity, expressed in developing mice and human brains. Predicted loss-of-function variants in this gene are extremely rare, indicating high intolerance of haploinsufficiency. METHODS: Three individuals with intellectual disability and iris anomalies and truncating de novo PRR12 variants were described previously. We add 21 individuals with similar PRR12 variants identified via matchmaking platforms, bringing the total number to 24. RESULTS: We observed 12 frameshift, 6 nonsense, 1 splice-site, and 2 missense variants and one patient with a gross deletion involving PRR12. Three individuals had additional genetic findings, possibly confounding the phenotype. All patients had developmental impairment. Variable structural eye defects were observed in 12/24 individuals (50%) including anophthalmia, microphthalmia, colobomas, optic nerve and iris abnormalities. Additional common features included hypotonia (61%), heart defects (52%), growth failure (54%), and kidney anomalies (35%). PrediXcan analysis showed that phecodes most strongly associated with reduced predicted PRR12 expression were enriched for eye- (7/30) and kidney- (4/30) phenotypes, such as wet macular degeneration and chronic kidney disease. CONCLUSION: These findings support PRR12 haploinsufficiency as a cause for a novel disorder with a wide clinical spectrum marked chiefly by neurodevelopmental and eye abnormalities.
- MeSH
- fenotyp MeSH
- haploinsuficience * genetika MeSH
- lidé MeSH
- mentální retardace * genetika MeSH
- missense mutace MeSH
- myši MeSH
- svalová hypotonie MeSH
- zvířata MeSH
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- lidé MeSH
- myši MeSH
- zvířata MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
- Research Support, N.I.H., Extramural MeSH
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