Table 1.
Classification of Muscular Dystrophies by Variant Identification.
| Dystrophin Deficient Muscular Dystrophy | |||||||
|---|---|---|---|---|---|---|---|
| Gene | Breed | Inherit. | Chr. | Genomic (g.) | Protein (p.) | Variant Phenotype Variant Phenotype |
References |
| DMD | Golden Retriever | X-linked | X | g.28,126,496T>C | p.P178* | splicing, out-of-frame (exon 7 skipping) |
Sharp et al., 1991, [6] |
| DMD | Rottweiler | X-linked | X | not reported nonsense mutation in exon 58 |
not reported | nonsense/stop-gain (exon 58) |
Winand et al., 1994, [7] |
| DMD | German Shorthaired Pointer | X-linked | X | deletion encompassing the entire DMD gene | Schatzberg et al., 1999, [8] | ||
| DMD | Labrador Retriever | X-linked | X | not reported 184 nucleotide [pseudoexon] insertion between exon 19 and exon 20 |
p.E795* | pseudoexon/stop-gain (intron 19) | Smith et al., 2007, [9]; Kornegay et al., 2012, [10] |
| DMD | Jack Russell Terrier | X-linked | X | g.27,787,968_28,181,867del | p.G33* | deletion, out-of-frame (exons 3–21) | Brunetti et al., 2010, [11] |
| DMD | Cavalier King Charles Spaniel | X-linked | X | g.27,122,234G>A | p.R2396* | splicing, out-of-frame (exon 50 skipping) (exon 50 skipping) |
Walmsley et al., 2010, [12] |
| DMD | Pembroke Welsh Corgi | X-linked | X | g.27,894,093_27,894,094insN[(480)] | p.V536* | pseudoexon/stop-gain (intron 13) | Smith et al., 2011, [13] |
| DMD | Cocker Spaniel | X-linked | X | not reported 4 bp deletion in exon 65 |
not reported | frameshift/stop-gain (exon 65) | Kornegay et al., 2012, [10] |
| DMD | Tibetan Terrier | X-linked | X | not reported large deletion of exons 8–29 |
p.D217* | deletion/stop-gain (exons 8–29) |
Kornegay et al., 2012, [10] |
| DMD | Norfolk Terrier | X-linked | X | g.27,778,709del | p.G1029* | frameshift/stop-gain (exon 23) | Jenkins et al., 2015, [14] |
| DMD | Japanese Spitz | X-linked | X | g.27804717_33,211,801inv | p.E795* | ~5.4 Mb inversion (intron 19) |
Antencia-Fernandez et al., 2015, [15] |
| DMD | Cavalier King Charles Spaniel | X-linked | X | g.27,615,610_27,615,616del | p.N2021* | frameshift/stop-gain (exon 42) | Nghiem et al., 2016, [16] |
| DMD | Miniature Poodle | X-linked | X | >5 Mb deletion encompassing the entire DMD gene | Sanchez et al., 2018, [17] | ||
| DMD | Australian Labradoodle | X-linked | X | g.27,794,550G>A | p.R890* | nonsense/stop-gain (exon 21) |
Shrader et al., 2018, [18] |
| DMD | Border Collie | X-linked | X | g.27,799,217del | p.N852* | frameshift/stop-gain (exon 20) | Lopez et al., 2018, [19] |
| DMD | Labrador Retriever | X-linked | X | g.27,795,539_30,022,040inv | p.D876* | ~2.2 Mb inversion (intron 20) |
Barthelemy et al., 2020, [20] |
| DMD | Labrador Retriever | X-linked | X | g.28,052,927_28,453,564dup | p.E12_D217dup | ~400 kb duplication, in-frame (exons 2–7) | Shelton et al., 2022, [21] |
| DMD | Brittany Spaniel | X-linked | X | g.26,939,052G>A | p.Q2687* | nonsense/stop-gain (exon 55) |
Current paper |
| DMD | Brittany Spaniel | X-linked | X | g.27,796,380ins (RSPRY1 retrogene) |
unknown | Retrogene insertion (intron 20) |
Current paper |
| DMD | French Bulldog | X-linked | X | g.27,774,668C>CT | p.F1125* | frameshift/stop-gain (exon 25) |
Current paper |
| Limb Girdle Muscular Dystrophy | |||||||
| SGCD | Boston terrier | AR | 4 | g.54,241,112_54,241,113del | p.E178* | frameshift/stop-gain (exon 7) | Cox et al., 2017, [22] |
| SGCD | Boston terrier | AR | 4 | g.54,148,966-54,148,968delinsCC;54,148,978_54,168,381del] | p.R191* | ~19.4 kb deletion (exons 8–9) | Cox et al., 2017, [22] |
| SGCA | Miniature Dachshund | AR | 9 | g.26,117,203G>A | p.W75* | nonsense/stop-gain (exon 3) |
Mickelson et al., 2021, [23] |
| Congenital Muscular Dystrophy | |||||||
| COL6A1 | Landseer Newfoundland | AR | 31 | g.39,284,371G>T | p.E97* | nonsense/stop-gain (exon 3) |
Steffen et al., 2015, [24] |
| COL6A3 | Labrador retriever | AR | 25 | g.48,296,579G>A | p.R1576* | nonsense/stop-gain (exon 11) |
Bolduc et al., 2020, [25] |
| COL6A3 | Labrador retriever | AD | 25 | g.48,289,626C>T | p.G2053_P2070del | splicing (exon 17 skipping) |
Bolduc et al., 2020, [25] |
| COL6A3 | American Staffordshire Terrier | AR | 25 | g.48,287,602del | p.P2133* | frameshift/stop-gain (exon 21) | Jankelunas et al., 2023, [26] |
| LAMA2 | Italian Greyhound | AR | 1 | g.68,441,978G>A | p.W1046* | nonsense/stop-gain (exon 22) |
Christen et al., 2021, [27] |
| LAMA2 | Staffordshire Bull Terrier | AR | 1 | g.68,292,960_68,295,150 | p.I211_R270del | ~2.2 kb deletion, in-frame (exon 5) | Shelton et al., 2021, [28] |
| LARGE1 | Labrador retriever | AR | 10 | g.31,373,423C>T | p.R455* | nonsense/stop-gain (exon 11) |
Shelton et al., 2021, [29] |
All positions reported in UU_Cfam_GSD_1.0/canFam4. DMD: NM_001003343; COL6A1: XM_038581692.1; COL6A3: NM_001103215.1; LAMA2: XM_038526759.1; LARGE1: XM_038550745.1; SGCD: XM_038534931.1; SGCA: XM_038547640.1.