The detail information of Acral mutilation syndrome
OMIA Basic Information

Possible human homologues (MIM numbers):

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: yes

Year key mutation first reported: 2016

Species-specific name: hereditary sensory neuropathy

Species-specific symbol: AMS

More detail information can see in

Associated Breeds
iDog Breed Number Breed Name Personality Height Weight History Breed Source
CB335 Epagneul Pont-Audemer(Pont-Audemer Spaniel) 52.1-58.4 cm France
CB97 English Springer Spaniel 50.8 cm (male), 48.3 cm (female) 22.7 kg (male), 18.1 kg (female) United Kingdom (England)
CB107 French Spaniel France
CB111 German Short-Haired Pointer 58.4-63.5 cm (male), 53.3-58.4 cm (female) 24.9-31.8 kg (male), 20.4-27.2 kg (female) Germany
Associated Gene
Symbol Description Species Position Other Links
GDNF glial cell derived neurotrophic factor Canis lupus familiaris Chr4 : 70966694 - 70991860 Homologene, Ensembl, NCBI gene
References
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
2019 Correard,S.,Plassais,J.,Lagoutte,L.,Botherel,N.,Thibaud,J.L.,Hédan,B.,Richard,L.,Lia,A.S.,Delague,V.,Mège,C.,Mathis,S.,Guaguère,E.,Paradis,M.,Vallat,J.M.,Quignon,P.,André,C.: :
Canine neuropathies: powerful spontaneous models for human hereditary sensory neuropathies. Hum Genet :, 2019.
Pubmed reference: 30955094 . DOI: 10.1007/s00439-019-02003-x .
2017 Correard,S.,Plassais,J.,Lagoutte,L.,Paradis,M.,Guagère,E.,Quignon,P.,Derrien,T.,André,C.: :
A spontaneous dog model for a human sensory neuropathy: identification of a mutation in the upstream region of a neurotrophic factor. Bull Acad Vét Fr 169:190-194, 2017.
DOI: 10.4267/2042/61953 .
2016 Plassais,J.,Lagoutte,L.,Correard,S.,Paradis,M.,Guaguère,E.,Hédan,B.,Pommier,A.,Botherel,N.,Cadiergues,M.-C.,Pilorge,P.,Silversides,D.,Bizot,M.,Samuels,M.,Arnan,C.,Johnson,R.,Hitte,C.,Salbert,G.,Méreau,A.,Quignon,P.,Derrien,T.,André,C.: :
A Point Mutation in a lincRNA Upstream of GDNF Is Associated to a Canine Insensitivity to Pain: A Spontaneous Model for Human Sensory Neuropathies PLoS Genetics 12: e1006482, 2016.
Pubmed reference: 28033318 . DOI: 10.1371/journal.pgen.1006482 .
2010 Bardagí,M.,Montoliu,P.,Ferrer,L.,Fondevila,D.,Pumarola,M.: :
Acral mutilation syndrome in a miniature pinscher. J Comp Pathol 144:235-8, 2010.
Pubmed reference: 20961556 . DOI: 10.1016/j.jcpa.2010.08.014 .
2005 Paradis,M.,deJaham,C.,Page,N.,Sauve,F.,Helie,P.: :
Acral mutilation and analgesia in 13 French spaniels. Vet Dermatol 16:87-93, 2005.
Pubmed reference: 15842538 . DOI: 10.1111/j.1365-3164.2005.00443.x .
1984 Cummings,J.F.,deLahunta,A.,Simpson,S.T.,McDonald,J.M.: :
Reduced substance P-like immunoreactivity in hereditary sensory neuropathy of pointer dogs. Acta Neuropathol. 63:33-40, 1984.
Pubmed reference: 6203326 .
1983 Cummings,JF.,deLahunta,A.,Braund,KG.,Mitchell,WJ.: :
Hereditary sensory neuropathy. Nociceptive loss and acral mutilation in pointer dogs: canine hereditary sensory neuropathy. Am J Pathol 112:136-8, 1983.
Pubmed reference: 6574711 .
1981 Cummings,JF.,deLahunta,A.,Winn,SS.: :
Acral mutilation and nociceptive loss in English pointer dogs. A canine sensory neuropathy. Acta Neuropathol 53:119-27, 1981.
Pubmed reference: 6259871 .
1973 Pivník,L.: :
[Comparative problems of acrodystrophic neuropathies in man and dogs]. Schweiz Arch Neurol Neurochir Psychiatr. 112:365–371, 1973.
Pubmed reference: 4725277 .
1964 Sanda,A.,Pivník,L.: :
Die zehernekrose bei kurghaarigen. Vorstehlunden Kleintierproxis 9:76 only, 1964.