ArticleThe American journal of pathology2026
The Pathogenic ADAMTSL2 D167N Variant Causes Geleophysic Dysplasia-Like Connective Tissue Changes in Mice.
Article in The American journal of pathology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Geleophysic dysplasia (GD) is caused by recessive mutations in ADAMTSL2 (a disintegrin and metalloprotease with thrombospondin type I motifs-2; GD1), or dominant mutations in FBN1 (GD2) or LTBP3 (GD3). GD is characterized by severe short stature and other skeletal abnormalities, characteristic facial features, thick skin, and hypermuscular build. Life-threatening complications can arise from progressive heart valve disease and narrowing of the large airways, resulting in approximately 33% mortality before the age of 5 years. Despite high childhood mortality and significant morbidity, no disease-modifying treatments exist for GD. To model disease progression and enable efficacy testing of mechanism-based therapeutic approaches, a mouse model for severe GD1 was generated by introducing the patient-specific ADAMTSL2 c.499G>A (p.D167N) mutation into the mouse Adamtsl2 locus. Homozygous Adamtsl2
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