ClassicalEhlers-Danlossyndrome(cEDS)isaheritableconnectivetissuedisordercharacterizedbyvariabledegreesofskinhyperextensibilityandfragility,atrophicscarring,andgeneralizedjointhypermobility.ThepurposeofthisstudywastocharacterizetheclinicopathologicalphenotypeofacEDS‐affectedHolsteincalfandtoidentifythecausativegeneticvariantassociatedwiththedisorderbywhole‐genomesequencing(WGS).A3‐day‐oldfemaleHolsteincalfwasreferredbecauseofeasilyinducedskindetachmentandhyperextensibilityintheneck.Acompleteclinicalinvestigationwasperformedinthecalf,dam,andmaternal‐grandmother.Thecalfanddamshowedhyperextensibilityoftheneckskinandatrophicscarring;additionally,thecalfpresentedskinfragility.Moreover,thehistopathologyofbiopsiesfromthecalfanditsdamshowedthatthecollagenbundlesinaffectedskinareaswerewavy,short,thin,andsurroundedbyedemaandmoderatetosevereacutehemorrhages.GeneticanalysisrevealedaprivateheterozygousmissensevariantinCOL5A2(c.2366G>T;p.Gly789Val)thatwaspresentonlyinthecalfanddam.ThisconfirmedthediagnosisofcEDSandrepresentsthefirstreportofacausalvariantforcEDSincattleandthefirstCOL5A2‐relatedlargeanimalmodel.
Jacinto, J.G.P., Häfliger, I.M., Veiga, I.M.B., Letko, A., Benazzi, C., Bolcato, M., et al. (2020). A Heterozygous Missense Variant in the COL5A2 in Holstein Cattle Resembling the Classical Ehlers–Danlos Syndrome. ANIMALS, 10(11), 2002-2015 [10.3390/ani10112002].
A Heterozygous Missense Variant in the COL5A2 in Holstein Cattle Resembling the Classical Ehlers–Danlos Syndrome
Jacinto, Joana G. P.;Benazzi, Cinzia;Bolcato, Marilena;
2020
Abstract
ClassicalEhlers-Danlossyndrome(cEDS)isaheritableconnectivetissuedisordercharacterizedbyvariabledegreesofskinhyperextensibilityandfragility,atrophicscarring,andgeneralizedjointhypermobility.ThepurposeofthisstudywastocharacterizetheclinicopathologicalphenotypeofacEDS‐affectedHolsteincalfandtoidentifythecausativegeneticvariantassociatedwiththedisorderbywhole‐genomesequencing(WGS).A3‐day‐oldfemaleHolsteincalfwasreferredbecauseofeasilyinducedskindetachmentandhyperextensibilityintheneck.Acompleteclinicalinvestigationwasperformedinthecalf,dam,andmaternal‐grandmother.Thecalfanddamshowedhyperextensibilityoftheneckskinandatrophicscarring;additionally,thecalfpresentedskinfragility.Moreover,thehistopathologyofbiopsiesfromthecalfanditsdamshowedthatthecollagenbundlesinaffectedskinareaswerewavy,short,thin,andsurroundedbyedemaandmoderatetosevereacutehemorrhages.GeneticanalysisrevealedaprivateheterozygousmissensevariantinCOL5A2(c.2366G>T;p.Gly789Val)thatwaspresentonlyinthecalfanddam.ThisconfirmedthediagnosisofcEDSandrepresentsthefirstreportofacausalvariantforcEDSincattleandthefirstCOL5A2‐relatedlargeanimalmodel.| File | Dimensione | Formato | |
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