A de novo mutation in col1a1 in a holstein calf with osteogenesis imperfecta type II

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A de novo mutation in col1a1 in a holstein calf with osteogenesis imperfecta type II. / Jacinto, Joana G.P.; Häfliger, Irene M.; McEvoy, Fintan J.; Drögemüller, Cord; Agerholm, Jørgen S.

I: Animals, Bind 11, Nr. 2, 561, 2021, s. 1-9.

Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt

Harvard

Jacinto, JGP, Häfliger, IM, McEvoy, FJ, Drögemüller, C & Agerholm, JS 2021, 'A de novo mutation in col1a1 in a holstein calf with osteogenesis imperfecta type II', Animals, bind 11, nr. 2, 561, s. 1-9. https://doi.org/10.3390/ani11020561

APA

Jacinto, J. G. P., Häfliger, I. M., McEvoy, F. J., Drögemüller, C., & Agerholm, J. S. (2021). A de novo mutation in col1a1 in a holstein calf with osteogenesis imperfecta type II. Animals, 11(2), 1-9. [561]. https://doi.org/10.3390/ani11020561

Vancouver

Jacinto JGP, Häfliger IM, McEvoy FJ, Drögemüller C, Agerholm JS. A de novo mutation in col1a1 in a holstein calf with osteogenesis imperfecta type II. Animals. 2021;11(2):1-9. 561. https://doi.org/10.3390/ani11020561

Author

Jacinto, Joana G.P. ; Häfliger, Irene M. ; McEvoy, Fintan J. ; Drögemüller, Cord ; Agerholm, Jørgen S. / A de novo mutation in col1a1 in a holstein calf with osteogenesis imperfecta type II. I: Animals. 2021 ; Bind 11, Nr. 2. s. 1-9.

Bibtex

@article{8e0c146884bb485f80c31629e98b010e,
title = "A de novo mutation in col1a1 in a holstein calf with osteogenesis imperfecta type II",
abstract = "Osteogenesis imperfecta (OI) type II is a genetic connective tissue disorder characterized by bone fragility, severe skeletal deformities and shortened limbs. OI usually causes perinatal death of affected individuals. OI type II diagnosis in humans is established by the identification of heter-ozygous mutations in genes coding for collagens. The purpose of this study was to characterize the pathological phenotype of an OI type II-affected neonatal Holstein calf and to identify the causative genetic variant by whole-genome sequencing (WGS). The calf had acute as well as intrauterine frac-tures, abnormally shaped long bones and localized arthrogryposis. Genetic analysis revealed a pri-vate heterozygous missense variant in COL1A1 (c.3917T>A) located in the fibrillar collagen NC1 domain (p.Val1306Glu) that most likely occurred de novo. This confirmed the diagnosis of OI type II and represents the first report of a pathogenic variant in the fibrillar collagen NC domain of COL1A1 associated to OI type II in domestic animals. Furthermore, this study highlights the utility of WGS-based precise diagnostics for understanding congenital disorders in cattle and the need for continued surveillance for rare lethal genetic disorders in cattle.",
keywords = "Bone disease, Bos taurus, Cattle, Collagenopathy, Preci-sion medicine, Rare diseases, Skeletal disorder, Whole-genome sequencing",
author = "Jacinto, {Joana G.P.} and H{\"a}fliger, {Irene M.} and McEvoy, {Fintan J.} and Cord Dr{\"o}gem{\"u}ller and Agerholm, {J{\o}rgen S.}",
year = "2021",
doi = "10.3390/ani11020561",
language = "English",
volume = "11",
pages = "1--9",
journal = "Animals",
issn = "2076-2615",
publisher = "MDPI",
number = "2",

}

RIS

TY - JOUR

T1 - A de novo mutation in col1a1 in a holstein calf with osteogenesis imperfecta type II

AU - Jacinto, Joana G.P.

AU - Häfliger, Irene M.

AU - McEvoy, Fintan J.

AU - Drögemüller, Cord

AU - Agerholm, Jørgen S.

PY - 2021

Y1 - 2021

N2 - Osteogenesis imperfecta (OI) type II is a genetic connective tissue disorder characterized by bone fragility, severe skeletal deformities and shortened limbs. OI usually causes perinatal death of affected individuals. OI type II diagnosis in humans is established by the identification of heter-ozygous mutations in genes coding for collagens. The purpose of this study was to characterize the pathological phenotype of an OI type II-affected neonatal Holstein calf and to identify the causative genetic variant by whole-genome sequencing (WGS). The calf had acute as well as intrauterine frac-tures, abnormally shaped long bones and localized arthrogryposis. Genetic analysis revealed a pri-vate heterozygous missense variant in COL1A1 (c.3917T>A) located in the fibrillar collagen NC1 domain (p.Val1306Glu) that most likely occurred de novo. This confirmed the diagnosis of OI type II and represents the first report of a pathogenic variant in the fibrillar collagen NC domain of COL1A1 associated to OI type II in domestic animals. Furthermore, this study highlights the utility of WGS-based precise diagnostics for understanding congenital disorders in cattle and the need for continued surveillance for rare lethal genetic disorders in cattle.

AB - Osteogenesis imperfecta (OI) type II is a genetic connective tissue disorder characterized by bone fragility, severe skeletal deformities and shortened limbs. OI usually causes perinatal death of affected individuals. OI type II diagnosis in humans is established by the identification of heter-ozygous mutations in genes coding for collagens. The purpose of this study was to characterize the pathological phenotype of an OI type II-affected neonatal Holstein calf and to identify the causative genetic variant by whole-genome sequencing (WGS). The calf had acute as well as intrauterine frac-tures, abnormally shaped long bones and localized arthrogryposis. Genetic analysis revealed a pri-vate heterozygous missense variant in COL1A1 (c.3917T>A) located in the fibrillar collagen NC1 domain (p.Val1306Glu) that most likely occurred de novo. This confirmed the diagnosis of OI type II and represents the first report of a pathogenic variant in the fibrillar collagen NC domain of COL1A1 associated to OI type II in domestic animals. Furthermore, this study highlights the utility of WGS-based precise diagnostics for understanding congenital disorders in cattle and the need for continued surveillance for rare lethal genetic disorders in cattle.

KW - Bone disease

KW - Bos taurus

KW - Cattle

KW - Collagenopathy

KW - Preci-sion medicine

KW - Rare diseases

KW - Skeletal disorder

KW - Whole-genome sequencing

U2 - 10.3390/ani11020561

DO - 10.3390/ani11020561

M3 - Journal article

C2 - 33672767

AN - SCOPUS:85100925487

VL - 11

SP - 1

EP - 9

JO - Animals

JF - Animals

SN - 2076-2615

IS - 2

M1 - 561

ER -

ID: 257970158