| Synonym (en) | Coat Color Dilution Lethal (CCDL) |
| Deutsch | Lavender Fohlen Syndrom (LFS) |
| Synonym (de) |
--
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| Französisch |
Syndrome du poulain lavande
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Gen
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MYO5A (myosin VA (heavy chain 12, myoxin))
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| Chromosom | ECA1 |
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OMIA#
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OMIA 001501-9796
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NCBI gene
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Mutation
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Deletion in Exon 30 (Brooks et al 2010). A single-base deletion causing the p.Arg1487AlafsX13 mutation and produces a truncated protein product through the insertion of a premature stop codon. (Bierman A et al 2010)
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Erbgang
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Autosomal rezessiv
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Merkmale / Symptome
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Die Fohlen haben eine charakteristische Aufhellung der Grundfarbe. Neurologische Störungen: Tetanie (krampfartige Anfälle), Opisthotonus, Nystagmus (unkontrollierbare, rhythmische Bewegungen des Auges), die Fohlen bleiben auf der Seite liegen, sind nicht in der Lage zu stehen und zu trinken, Saugreflex bleibt vorhanden. Die Fohlen sind nicht lebensfähig. Sie sterben kurz nach der Geburt (48-72h) oder müssen eingeschläfert werden.
Bilder: Brooks SA et al 2010;
Bilder und Video: Animal Genetics.
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| Belastungen |
Erblich bedingte tiefgreifende Einschränkung der Sinnesfunktionen (Nervensystem). Schwere neurologische Schäden, die zu Funktionsausfällen führen und den Allgemeinzustand stark beeinträchtigen. Massgebende Kriterien für die Beurteilung der Belastungen sind insbesondere:
Zuchtstrategie und Massnahmen
Eltern
DNA-Test; gezielte Anpaarungen; Anpassung der Zuchtstrategie (Mutationsträger sollen in der Zucht nicht eingesetzt werden) Betroffene Nachkommen
Diagnose (DNA-Test; Differentialdiagnose: Juveniles Epilepsiesyndrom (JES)); Euthanasie |
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Rassen
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Bisher nur beim arabischen Pferd beschrieben; besonders bei Vollblutarabern ägyptischer Herkunft (Egyptian Arabians) in USA.
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| Allelfrequenz (%) | Araber in Europa: 1.62% (Gabreski NA et al 2012) |
| Trägerfrequenz (%) |
USA: 10.3% (Brooks et al 2010)
South Africa, 2009: 11.7% (Tarr CJ et al 2014)
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| Gründer | Nicht veröffentlicht |
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DNA-Test
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Bemerkungen
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(en) CHOWDHARY B E. (2013). Equine Genomics. Wiley-Blackwell. 336 Seiten
- ISBN: 978-0-8138-1563-3
- ISBN: 978-1-118-52212-7 (e-book)
- Beschreibung, Inhalt, Autoren: WILEY http://eu.wiley.com/WileyCDA/ > Life Sciences > Genetics > Animal Genetics
- html <http://eu.wiley.com/WileyCDA/WileyTitle/productCd-0813815630.html>
- [Stand: 22.06.2014]
(en) TARR CJ, THOMPSON PN, GUTHRIE AJ, HARPER CK. (2014). The carrier prevalence of severe combined immunodeficiency, lavender foal syndrome and cerebellar abiotrophy in Arabian horses in South Africa. Equine Veterinary Journal. 46(4): 512–514.
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DOI: 10.1111/evj.12177
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Equine Veterinary Journal http://onlinelibrary.wiley.com/journal/10.1001/(ISSN)2042-3306
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Abstract <http://onlinelibrary.wiley.com/doi/10.1111/evj.12177/abstract>
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Pdf <http://onlinelibrary.wiley.com/doi/10.1111/evj.12177/pdf>
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[Stand: 21.07.2014]
(en) BROOK SA, BELLONE RR. (2013). Coat colors genomics. In Chowdhary BE, Equine Genomics. Wiley-Blackwell, 143-153
- [Stand: 22.06.2014]
(en) FINNO CJ, ALEMAN M. (2013). Genomics of equine neurologic disease. In Chowdhary BE, Equine Genomics. Wiley-Blackwell, 217-239
- [Stand: 22.06.2014]
(en) GABRESKI N, HAASE B, ARMSTRONG CD, DISTL O, BROOKS SA. (2012). Investigation of allele frequencies for Lavender foal syndrome in the horse. Animal Genetics, 43(5): 650
- DOI: 10.1111/j.1365-2052.2011.02305.x.
- Animal Genetics http://onlinelibrary.wiley.com/journal/10.1111/(ISSN)1365-2052
- Pdf <http://onlinelibrary.wiley.com/doi/10.1111/j.1365-2052.2011.02305.x/pdf>
- [Stand: 16.10.2014]
en) TARR CJ. (2012). The prevalence of severe combined immunodeficiency, lavender foal syndrome and cerebellar abiotrophy in Arabian horses in South Africa. Thesis, University of Pretoria. 56 pages
- Pdf <http://upetd.up.ac.za/thesis/available/etd-06252013-121846/unrestricted/dissertation.pdf>
- [Stand: 21.07.2014]
(en) BELLONE RR. (2010). Pleiotropic effects of pigmentation genes in horses. Animal Genetics, 41(s2): 100-110
- DOI: 10.1111/j.1365-2052.2010.02116.x
- Animal Genetics http://onlinelibrary.wiley.com/journal/10.1111/(ISSN)1365-2052
- Abstract <http://onlinelibrary.wiley.com/doi/10.1111/j.1365-2052.2010.02116.x/abstract>
- Pdf <http://onlinelibrary.wiley.com/doi/10.1111/j.1365-2052.2010.02116.x/pdf >
- [Stand: 08.10.2014]
(en) BIERMAN A, GUTHRIE A J, HARPER C K. (2010). Lavender foal syndrome in Arabian horses is caused by a single‐base deletion in the MYO5A gene. Animal genetics, 41(s2): 199-201
- DOI: 10.1111/j.1365-2052.2010.02086.x
- Animal Genetics http://onlinelibrary.wiley.com/journal/10.1111/(ISSN)1365-2052
- Abstract <http://onlinelibrary.wiley.com/doi/10.1111/j.1365-2052.2010.02086.x/abstract>
- Pdf <http://onlinelibrary.wiley.com/doi/10.1111/j.1365-2052.2010.02086.x/pdf>
- [Stand: 16.10.2014]
(en) BROOKS SA, GABRESKI N, MILLER D, BRISBIN A, BROWN HE, STREETER C, MEZEY J, COOK D, ANTCZAK DF. (2010). Whole-genome SNP association in the horse: identification of a deletion in myosin Va responsible for Lavender Foal Syndrome. PLoS Genetics, 6(4): e1000909
- DOI: 10.1371/journal.pgen.1000909
- PLoS Genetics http://www.plosgenetics.org/
- Abstract <http://www.plosgenetics.org/article/info%3Adoi%2F10.1371%2Fjournal.pgen.1000909>
- Pdf <http://www.plosgenetics.org/article/fetchObject.action?uri=info%3Adoi%2F10.1371%2Fjournal.pgen.1000909&representation=PDF>
- [Stand: 16.10.2014]
(en) GABRESKI N, BROOKS, S., MILLER, D., & ANCZAK, D. (2009). Mapping of lavender foal syndrome using the EquineSNP50 Chip. Journal of Equine Veterinary Science, 29(5), 321-322.
- DOI: 10.1016/j.jevs.2009.04.029
- Journal of Equine Veterinary Science http://www.j-evs.com/
- Abstract <http://www.j-evs.com/article/S0737-0806(09)00294-9/abstract>
- Pdf <http://www.sciencedirect.com/science/article/pii/S0737080609002949/pdfft?md5=5764284b970fb2656758d897d2076f32&pid=1-s2.0-S0737080609002949-main.pdf>
- [Stand: 16.10.2014]
(en) PAGE P, PARKER R, HARPER C, GUTHRIE A, NESER J. (2006). Clinical, clinicopathologic, postmortem examination findings and familial history of 3 Arabians with lavender foal syndrome. Journal of Veterinary Internal Medicine, 20(6):1491-1494
- DOI: 10.1111/j.1939-1676.2006.tb00772.x
- Journal of Veterinary Internal Medicine http://onlinelibrary.wiley.com/journal/10.1111/(ISSN)1939-1676
- Abstract <http://onlinelibrary.wiley.com/doi/10.1111/j.1939-1676.2006.tb00772.x/abstract>
- Pdf <http://onlinelibrary.wiley.com/doi/10.1111/j.1939-1676.2006.tb00772.x/pdf>
- [Stand: 16.10.2014]
(en) FANELLI HH. (2005). Coat colour dilution lethal (‘lavender foal a’): syndrome tetany syndrome of Arabian foals. Equine Veterinary Education, 17(5): 260-263.
- DOI: 10.1111/j.2042-3292.2005.tb00386.x
- Equine Veterinary Education http://onlinelibrary.wiley.com/journal/10.1001/%28ISSN%292042-3292
- Abstract <http://onlinelibrary.wiley.com/doi/10.1111/j.2042-3292.2005.tb00386.x/abstract>
- Pdf <http://onlinelibrary.wiley.com/doi/10.1111/j.2042-3292.2005.tb00386.x/pdf>
- Pdf <http://www.foal.org/Fanelli_260_263.pdf>
- [Stand: 16.10.2014]
(en) BROOKS SA, GABRESKI N, ANTCZAK D. (2015). Identification of mutation and method for detecting lavender foal syndrome in the horse. US Patent, US 8932810 B2
- US 8932810 B2 https://www.google.com/patents/US8932810
- Pdf https://docs.google.com/viewer?url=patentimages.storage.googleapis.com/pdfs/US8932810.pdf
- [Stand: 01.10.2015]
(en) BROOKS SA, GABRESKI N, ANTCZAK D. (2011). Identification of mutation and method for detecting lavender foal syndrome in the horse. US Patent, US 20130022972 A1
- US 20110265193 A1 https://www.google.com/patents/US20110265193
- Pdf https://docs.google.com/viewer?url=patentimages.storage.googleapis.com/pdfs/US20110265193.pdf
- [Stand: 12.10.2014]
(en) CLARKSON N (2010). Genetic breakthrough in lavender foal research, http://horsetalk.co.nz
- html http://horsetalk.co.nz/news/2010/04/116.shtml
- [Stand: 12.10.2014]
(en) GUTHRIE AJ, HARPER CK, BIERMAN A. (2013). Oligonucleotides and methods for detecting lavender foal syndrome. US Patent, US 20130022972 A1
- US 20130022972 A1 https://www.google.com/patents/US20130022972
- Pdf https://docs.google.com/viewer?url=patentimages.storage.googleapis.com/pdfs/US20130022972.pdf
- [Stand: 12.10.2014]
(en) Animal Genetics UK, Lavender Foal Syndrome (LFS)
- html http://www.animalgenetics.eu/Equine/equine-genetic-disease/lfs.html
- [Stand: 12.10.2014]
(de) BIOFOCUS, LFS - Lavender Foal Syndrom (arabische Pferde)
- html http://www.biofocus.de/de/tier/pferd/erbkrankheiten/
- [Stand: 18.11.2014]
(de) GenControl, Erbkrankheiten, LFS
- html http://www.genecontrol.de/lfs.html
- [Stand: 21.07.2014]
(fr) LABEO Laboratoire Frank Duncombe, 1 rote du Rozel, 14053 Caen cedex
- html http://www.labo-frank-duncombe.fr/
- pdf http://www.labo-frank-duncombe.fr/files/fck/files/catalogue-2014.pdf
- [Stand: 03.08.2014]
(en) Practical Horse Genetics, Lavender foal syndrome (LFS)
- html http://www.practicalhorsegenetics.com.au/index.php?dis=lfs
- [Stand: 01.10.2015]
(en) Progenus, Horse/LFS
- html http://www.progenus.be/genetic-tests/160-horse-lfs
- [Stand: 01.10.2015]
(en) UC Davis, Arabian/Arabian Cross Horse Genetic Tests, Lavender Foal Syndrome (LFS)
- html https://www.vgl.ucdavis.edu/services/CA.php#LFS
- [Stand: 16.10.2014]
(en) VetGen, Veterinary Genetic Service, Lavender Foal Syndrome (LFS)
- html http://www.vetgen.com/equine-LFS-service.html
- [Stand: 12.10.2014]