Department of Small Animal Medicine and Surgery, Midwestern University, Glendale, 85308, AZ, USA.
Department of Veterinary Pathobiology, University of Missouri, Columbia, 65211, MO, USA.
Anim Genet. 2019 Oct;50(5):543-545. doi: 10.1111/age.12825. Epub 2019 Jul 11.
An eight-week old Doberman Pinscher was diagnosed with Ehlers Danlos syndrome based on the dog's hyper-mobile carpal, tarsal and stifle joints and abnormal skin. The skin was loose and hyper-elastic with several wounds and large atrophic scars. The dog was euthanized after a severe degloving injury from minimal trauma. A whole-genome sequence, generated with DNA from the dog's blood, contained a rare, homozygous C-to-T transition at position 2408978 on chromosome 11. This transition is predicted to alter the ADAMTS2 transcript (ADAMTS2:c.769C>T) and encode a nonsense mutation (p.Arg257Ter). Biallelic ADAMTS2 mutations have caused a type of Ehlers Danlos syndrome known as dermatosparaxis in other species.
一只八周大的德国牧羊犬被诊断出患有埃勒斯-当洛斯综合征，依据是其腕关节、跗关节和膝关节过度活动以及异常的皮肤。该犬的皮肤松弛且具有高弹性，有几处伤口和大的萎缩性瘢痕。该犬在受到轻微创伤后发生严重的剥脱伤，随后被实施安乐死。对犬血液中的 DNA 进行全基因组测序，在第 11 号染色体上位置 2408978 发现一个罕见的纯合 C 到 T 转换。该转换预计会改变 ADAMTS2 转录本（ADAMTS2:c.769C>T）并编码一个无意义突变（p.Arg257Ter）。在其他物种中，双等位基因 ADAMTS2 突变导致一种称为皮肤弹性过度症的埃勒斯-当洛斯综合征。
