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Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature
S. El Chehadeh, WS. Kerstjens-Frederikse, J. Thevenon, P. Kuentz, AL. Bruel, C. Thauvin-Robinet, C. Bensignor, H. Dollfus, V. Laugel, JB. Rivière, Y. Duffourd, C. Bonnet, MP. Robert, R. Isaiko, M. Straub, C. Creuzot-Garcher, P. Calvas, N....
Jazyk angličtina Země Anglie, Velká Británie
Typ dokumentu časopisecké články
NLK
Free Medical Journals
od 2009
PubMed Central
od 2009 do Před 1 rokem
Europe PubMed Central
od 2009 do Před 1 rokem
ProQuest Central
od 2000-01-01 do Před 1 rokem
Open Access Digital Library
od 1998-01-01
Health & Medicine (ProQuest)
od 2000-01-01 do Před 1 rokem
PubMed
27804958
DOI
10.1038/ejhg.2016.133
Knihovny.cz E-zdroje
- MeSH
- chromozomální delece MeSH
- dítě MeSH
- exom genetika MeSH
- fenotyp MeSH
- lidé MeSH
- lidské chromozomy, pár 8 genetika MeSH
- mentální retardace genetika patofyziologie MeSH
- mladiství MeSH
- nanismus genetika patofyziologie MeSH
- posunová mutace MeSH
- předškolní dítě MeSH
- represorové proteiny genetika MeSH
- sestřih RNA genetika MeSH
- sestřihové faktory genetika MeSH
- vrozené srdeční vady genetika patofyziologie MeSH
- vysoce účinné nukleotidové sekvenování MeSH
- Check Tag
- dítě MeSH
- lidé MeSH
- mladiství MeSH
- mužské pohlaví MeSH
- předškolní dítě MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
Verheij syndrome, also called 8q24.3 microdeletion syndrome, is a rare condition characterized by ante- and postnatal growth retardation, microcephaly, vertebral anomalies, joint laxity/dislocation, developmental delay (DD), cardiac and renal defects and dysmorphic features. Recently, PUF60 (Poly-U Binding Splicing Factor 60 kDa), which encodes a component of the spliceosome, has been discussed as the best candidate gene for the Verheij syndrome phenotype, regarding the cardiac and short stature phenotype. To date, only one patient has been reported with a de novo variant in PUF60 that probably affects function (c.505C>T leading to p.(His169Tyr)) associated with DD, microcephaly, craniofacial and cardiac defects. Additional patients were required to confirm the pathogenesis of this association and further delineate the clinical spectrum. Here we report five patients with de novo heterozygous variants in PUF60 identified using whole exome sequencing. Variants included a splice-site variant (c.24+1G>C), a frameshift variant (p.(Ile136Thrfs*31)), two nonsense variants (p.(Arg448*) and p.(Lys301*)) and a missense change (p.(Val483Ala)). All six patients with a PUF60 variant (the five patients of the present study and the unique reported patient) have the same core facial gestalt as 8q24.3 microdeletions patients, associated with DD. Other findings include feeding difficulties (3/6), cardiac defects (5/6), short stature (5/6), joint laxity and/or dislocation (5/6), vertebral anomalies (3/6), bilateral microphthalmia and irido-retinal coloboma (1/6), bilateral optic nerve hypoplasia (2/6), renal anomalies (2/6) and branchial arch defects (2/6). These results confirm that PUF60 is a major driver for the developmental, craniofacial, skeletal and cardiac phenotypes associated with the 8q24.3 microdeletion.
Centre of Medical Genetics University Hospital of Antwerp Antwerpen Edegem Belgium
EA 4271 Génétique et Anomalies du Développement Université de Bourgogne Dijon France
Service d'Ophtalmologie Hôpital Civil CHU de Dijon Dijon France
Service de Cardiopédiatrie Hôpital d'enfants CHU de Dijon Dijon France
Service de Pédiatrie Hôpital d'enfants CHU de Dijon Dijon France
Citace poskytuje Crossref.org
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- $a El Chehadeh, Salima $u FHU TRANSLAD, Centre de Référence Maladies Rares <Anomalies du développement et syndromes malformatifs> de l'Est, Centre de Génétique, CHU de Dijon, Dijon, France. Service de génétique médicale, Institut de génétique médicale d'Alsace (IGMA), Centre de Référence Maladies Rares <Anomalies du développement et syndromes malformatifs> de l'Est, Hôpitaux Universitaires de Strasbourg, Hôpital de Hautepierre, Strasbourg, France.
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- $a Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature / $c S. El Chehadeh, WS. Kerstjens-Frederikse, J. Thevenon, P. Kuentz, AL. Bruel, C. Thauvin-Robinet, C. Bensignor, H. Dollfus, V. Laugel, JB. Rivière, Y. Duffourd, C. Bonnet, MP. Robert, R. Isaiko, M. Straub, C. Creuzot-Garcher, P. Calvas, N. Chassaing, B. Loeys, E. Reyniers, G. Vandeweyer, F. Kooy, M. Hančárová, M. Havlovicová, D. Prchalová, Z. Sedláček, C. Gilissen, R. Pfundt, JS. Wassink-Ruiter, L. Faivre,
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- $a Verheij syndrome, also called 8q24.3 microdeletion syndrome, is a rare condition characterized by ante- and postnatal growth retardation, microcephaly, vertebral anomalies, joint laxity/dislocation, developmental delay (DD), cardiac and renal defects and dysmorphic features. Recently, PUF60 (Poly-U Binding Splicing Factor 60 kDa), which encodes a component of the spliceosome, has been discussed as the best candidate gene for the Verheij syndrome phenotype, regarding the cardiac and short stature phenotype. To date, only one patient has been reported with a de novo variant in PUF60 that probably affects function (c.505C>T leading to p.(His169Tyr)) associated with DD, microcephaly, craniofacial and cardiac defects. Additional patients were required to confirm the pathogenesis of this association and further delineate the clinical spectrum. Here we report five patients with de novo heterozygous variants in PUF60 identified using whole exome sequencing. Variants included a splice-site variant (c.24+1G>C), a frameshift variant (p.(Ile136Thrfs*31)), two nonsense variants (p.(Arg448*) and p.(Lys301*)) and a missense change (p.(Val483Ala)). All six patients with a PUF60 variant (the five patients of the present study and the unique reported patient) have the same core facial gestalt as 8q24.3 microdeletions patients, associated with DD. Other findings include feeding difficulties (3/6), cardiac defects (5/6), short stature (5/6), joint laxity and/or dislocation (5/6), vertebral anomalies (3/6), bilateral microphthalmia and irido-retinal coloboma (1/6), bilateral optic nerve hypoplasia (2/6), renal anomalies (2/6) and branchial arch defects (2/6). These results confirm that PUF60 is a major driver for the developmental, craniofacial, skeletal and cardiac phenotypes associated with the 8q24.3 microdeletion.
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