Categories: Lysosomal storage disease

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 252940 (trait) , 607664 (gene)

Links to relevant human diseases in MONDO:

• MONDO:0009658: mucopolysaccharidosis type 3D

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal recessive

Disease-related: yes

Key variant known: yes

Year key variant first reported: 1995

Cross-species summary: The only domestic species in which this lysosomal storage disease has been reported is goats (Thompson et al., 1992). Its molecular basis in this species was elucidated by Cavanagh et al. (1995).

Species-specific description: This lysosomal storage disease was first reported in goats by Thompson et al. (1992). It has not yet been reported in any other domestic species. Its molecular basis was described by Cavanagh et al. (1995).

Molecular basis: By cloning and sequencing a very likely comparative candidate gene (based on the homologous human disorder), Cavanagh et al. (1995) showed that this disorder in goats is due a nonsense mutation ("changing a C to T in codon 102 of the 559-amino-acid G6S coding sequence") in the 5' region of the caprine gene for N-acetylglucosamine-6-sulphatase (GNS).

Breed: Anglo-Nubian (Goat) (VBO_0000722).
Breeds in which the phene has been documented. (If a likely causal variant has been documented for the phene, see the variant table breeds in which the variant has been reported).

Associated gene: