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.
A Heterozygous Missense Variant in the COL5A2 in Holstein Cattle Resembling the Classical Ehlers–Danlos Syndrome / Jacinto, Joana G. P.; Häfliger, Irene M.; Veiga, Inês M. B.; Letko, Anna; Benazzi, Cinzia; Bolcato, Marilena; Drögemüller, Cord. - In: ANIMALS. - ISSN 2076-2615. - ELETTRONICO. - 10:11(2020), pp. 2002.2002-2002.2015. [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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