Categories: Renal / urinary system phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 120131 (gene) , 203780 (trait) , 141200 (trait)

Links to relevant human diseases in MONDO:

• MONDO:0008762: autosomal recessive Alport syndrome

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal recessive

Disease-related: yes

Key variant known: yes

Year key variant first reported: 2007

Species-specific name: Autosomal recessive hereditary nephropathy; Alport syndrome; autosomal recessive nephritis

Species-specific symbol: ARNH

Species-specific description: For other types of hereditary nephritis/nephropathy see also: 'OMIA:001112-9615: Nephritis, X-linked'; 'OMIA:001114-9615 Nephritis, autosomal dominant'; OMIA000708-9615: Nephritis' and 'OMIA:000413-9615 Glomerulonephritis'.

Molecular basis: By sequencing the most obvious candidate gene, Davidson et al. (2007) identified a causal mutation as "a single nucleotide substitution at base 115 as the cause of ARHN in English Cocker Spaniels. This mutation, which causes a premature stop codon in exon 3 of COL4A4 was segregated with clinical status in all affected dogs and obligate carriers". Nowend et al. (2012) reported a different mutation in the same gene in English Springer Spaniels: "a single nucleotide substitution in COL4A4 at base 2806 resulting in a premature stop codon".

Prevalence: Prevalence: Andrade et al. (2020) reported the frequency of the c.115T variant as 0.9% in English Cocker Spaniels in Brazil.

Breeds: English Cocker Spaniel (Dog) (VBO_0200486), English Springer Spaniel (Dog) (VBO_0200497).
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: