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Delineation of phen...
Delineation of phenotypes and genotypes related to cohesin structural protein RAD21
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- Krab, Lianne C. (författare)
- Univ Amsterdam, Amsterdam UMC, Dept Pediat, Meibergdreef 9, NL-1105 AZ Amsterdam, Netherlands; Cordaan Outpatient Clin ID Med, Klinkerweg 75, NL-1033 PK Amsterdam, Netherlands; Cordaan Outpatient Clin ID Med, Purmerend, Netherlands
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- Marcos-Alcalde, Iñigo (författare)
- UAM, CSIC, CBMSO, Mol Modelling Grp, Madrid, Spain; UFV, Sch Expt Sci, IIB, Pozuelo De Alarcon, Spain
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- Assaf, Melissa (författare)
- Banner Childrens Specialists Neurol Clin, Glendale, AZ USA
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- Balasubramanian, Meena (författare)
- Univ Sheffield, Sheffield Childrens Hosp, Acad Unit Child Hlth, Clin Genet Serv, Sheffield, S Yorkshire, England
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- Bayer Andersen, Janne (författare)
- Copenhagen Univ Hosp, Rigshosp, Dept Clin Genet, Kennedy Ctr, Gl Landevej 7, DK-2600 Glostrup, Denmark
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- Bisgaard, Anne-Marie (författare)
- Copenhagen Univ Hosp, Rigshosp, Dept Pediat & Adolescent Med, Glostrup, Denmark
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- Fitzpatrick, David R. (författare)
- Univ Edinburgh, MRC Human Genet Unit, Edinburgh, Midlothian, Scotland
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- Gudmundsson, Sanna, 1989- (författare)
- Uppsala universitet,Medicinsk genetik och genomik
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- Huisman, Sylvia A. (författare)
- Univ Amsterdam, Amsterdam UMC, Dept Pediat, Meibergdreef 9, NL-1105 AZ Amsterdam, Netherlands; Prinsenstichting, Purmerend, Netherlands
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- Kalayci, Tugba (författare)
- Istanbul Univ, Dept Internal Med, Div Med Genet, Istanbul, Turkey
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- Maas, Saskia M. (författare)
- Univ Amsterdam, Amsterdam UMC, Dept Pediat, Meibergdreef 9, NL-1105 AZ Amsterdam, Netherlands; Univ Amsterdam, Dept Clin Genet, Amsterdam UMC, Amsterdam, Netherlands
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- Martinez, Francisco (författare)
- Hosp Univ & Politecn La Fe, Unidad Genet, Valencia, Spain
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- McKee, Shane (författare)
- Belfast City Hosp, Northern Ireland Reg Genet Serv, Belfast, Antrim, North Ireland
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- Menke, Leonie A. (författare)
- Univ Amsterdam, Amsterdam UMC, Dept Pediat, Meibergdreef 9, NL-1105 AZ Amsterdam, Netherlands
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- Mulder, Paul A. (författare)
- Lentis Psychiat Inst, Jonx Dept Youth Mental Hlth & Autism, Autism Team Northern Netherlands, Groningen, Netherlands
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- Murch, Oliver D. (författare)
- Univ Hosp Wales, Inst Med Genet, Cardiff, Wales
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- Parker, Michael (författare)
- Northern Gen Hosp, Clin Genet Serv, Sheffield, S Yorkshire, England
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- Pie, Juan (författare)
- Univ Zaragoza, Sch Med, Univ Hosp Lozano Blesa, Unit Clin Genet,Serv Pediat, Zaragoza, Spain
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- Ramos, Feliciano J. (författare)
- Univ Zaragoza, Sch Med, Dept Pharmacol & Physiol, Unit Clin Genet Unit & Funct Genom, Zaragoza, Spain
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- Rieubland, Claudine (författare)
- Univ Bern, Dept Pediat, Div Human Genet, Inselspital, Bern, Switzerland
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- Mokry, Jill A. Rosenfeld (författare)
- Baylor Coll Med, Dept Mol & Human Genet, Baylor Genet Labs, Houston, TX 77030 USA
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- Scarano, Emanuela (författare)
- St Orsola Hosp, Dept Pediat, Rare Dis Unit, Bologna, Italy
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- Shinawi, Marwan (författare)
- Washington Univ, Sch Med, Dept Pediat, Div Genet & Genom Med, St Louis, MO 63110 USA
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- Gomez-Puertas, Paulino (författare)
- UAM, CSIC, CBMSO, Mol Modelling Grp, Madrid, Spain
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- Tümer, Zeynep (författare)
- Copenhagen Univ Hosp, Rigshosp, Dept Clin Genet, Kennedy Ctr, Gl Landevej 7, DK-2600 Glostrup, Denmark; Univ Copenhagen, Dept Clin Med, Copenhagen, Denmark
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- Hennekam, Raoul C. (författare)
- Univ Amsterdam, Amsterdam UMC, Dept Pediat, Meibergdreef 9, NL-1105 AZ Amsterdam, Netherlands
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(creator_code:org_t)
- 2020-03-19
- 2020
- Engelska.
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Ingår i: Human Genetics. - : Springer Science and Business Media LLC. - 0340-6717 .- 1432-1203. ; 139:5, s. 575-592
- Relaterad länk:
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https://doi.org/10.1...
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https://uu.diva-port... (primary) (Raw object)
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https://link.springe...
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https://urn.kb.se/re...
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https://doi.org/10.1...
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Abstract
Ämnesord
Stäng
- RAD21 encodes a key component of the cohesin complex, and variants in RAD21 have been associated with Cornelia de Lange Syndrome (CdLS). Limited information on phenotypes attributable to RAD21 variants and genotype–phenotype relationships is currently published. We gathered a series of 49 individuals from 33 families with RAD21 alterations [24 different intragenic sequence variants (2 recurrent), 7 unique microdeletions], including 24 hitherto unpublished cases. We evaluated consequences of 12 intragenic variants by protein modelling and molecular dynamic studies. Full clinical information was available for 29 individuals. Their phenotype is an attenuated CdLS phenotype compared to that caused by variants in NIPBL or SMC1A for facial morphology, limb anomalies, and especially for cognition and behavior. In the 20 individuals with limited clinical information, additional phenotypes include Mungan syndrome (in patients with biallelic variants) and holoprosencephaly, with or without CdLS characteristics. We describe several additional cases with phenotypes including sclerocornea, in which involvement of the RAD21 variant is uncertain. Variants were frequently familial, and genotype–phenotype analyses demonstrated striking interfamilial and intrafamilial variability. Careful phenotyping is essential in interpreting consequences of RAD21 variants, and protein modeling and dynamics can be helpful in determining pathogenicity. The current study should be helpful when counseling families with a RAD21 variation.
Ämnesord
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
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- art (ämneskategori)
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Krab, Lianne C.
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Marcos-Alcalde, ...
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Assaf, Melissa
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Balasubramanian, ...
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Bayer Andersen, ...
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Bisgaard, Anne-M ...
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Fitzpatrick, Dav ...
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Gudmundsson, San ...
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Huisman, Sylvia ...
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Kalayci, Tugba
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Maas, Saskia M.
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Martinez, Franci ...
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McKee, Shane
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Menke, Leonie A.
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Mulder, Paul A.
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Murch, Oliver D.
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Parker, Michael
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Pie, Juan
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Ramos, Feliciano ...
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Rieubland, Claud ...
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Mokry, Jill A. R ...
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Scarano, Emanuel ...
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Shinawi, Marwan
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Gomez-Puertas, P ...
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Tümer, Zeynep
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Hennekam, Raoul ...
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- MEDICIN OCH HÄLSOVETENSKAP
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MEDICIN OCH HÄLS ...
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och Medicinska och f ...
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och Medicinsk geneti ...
- Artiklar i publikationen
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Human Genetics
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Uppsala universitet