Lionhead Dwarf — Neuronal ceroid lipofuscinosis, 7 (hereditary; OMIA-verified breed predisposition)

Source: first-hand OMIA (University of Sydney) breed-specific hereditary-disorder record, saved verbatim to source_file; every claim below is a C1 byte-substring of it.

Claims

Breed: Lionhead Dwarf
Disorder:
Mode of inheritance: Probably autosomal recessive
Clin feat: Böttcher-Künneke et al. (2020) reported a 2 year old female lionhead dwarf rabbit which was presented due to behavioural changes, acute anxiety, hyperaesthesia, disorientation, ataxia, loss of vision, phantom scratching, epileptic seizures and a severe nasal dermatitis; all of which progressed within the following twelve months. ... Due to the progressive deterioration of its clinical signs and poor quality of life, the rabbit was euthanised.
Defect: yes
Pathology: Böttcher-Künneke et al. (2020) report pathological findings in the affected lionhead dwarf rabbit: At necropsy, a symmetrical internal hydrocephalus of the lateral ventricles was present. Histologically, neurons of the cerebrum, hippocampus, cerebellum, brain stem and spinal cord were enlarged due to the accumulation of an eosinophilic, partially granular intracytoplasmic material, which led to the diagnosis of a neuronal storage disease.nbsp;Christen et al. (2024) report additional pathological findings: Cytoplasmic pigment present in neurons was weakly positive with Sudan black B and autofluorescent. Immunohistology revealed astrogliosis, microgliosis and axonal degeneration.

Associated gene(s)

Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. First-hand values below are verbatim substrings of the topic's pdf-raw/omia/<phene_id>.txt source file.

Gene: Entrez Gene ID 398298897 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene
OMIA molecular-genetics note: Christen et al. (2024) "the genome of the affected [lionhead dwarf] rabbit was sequenced and examined for private variants in NCL candidate genes. The analysis revealed a homozygous ~10.7 kb genomic duplication on chromosome 15 comprising parts of the <em>MFSD8</em> gene, NC_013683.1:g.103,727,963_103,738,667dup. The duplication harbors two internal protein coding exons and is predicted to in…

Evidence (references)

Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. First-hand values below are verbatim substrings of the topic's pdf-raw/omia/<phene_id>.txt source file.

2024. Intragenic MFSD8 duplication and histopathological findings in a rabbit with neuronal ceroid lipofuscinosis. Anim Genet — PubMed:PMID38712841 | DOI:10.1111/age.13441 — OMIA Phene_Article / Article
2020. Neuronale Speicherkrankheit bei einem ausgewachsenen weiblichen Kaninchen. Kleintierpraxis — DOI:doi.org/10.2377/0023-2076-65-656 — OMIA Phene_Article / Article

Comparative medicine (human OMIM)

Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. First-hand values below are verbatim substrings of the topic's pdf-raw/omia/<phene_id>.txt source file.

OMIM:610951 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
OMIM:611124 (type: gene) — OMIA Group_OMIM (via OMIA_ID)

Lionhead Dwarf — Neuronal ceroid lipofuscinosis, 7 (hereditary; OMIA-verified breed predisposition)