Last updated on: 13.04.2022

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The ADAMTS3 gene (ADAMTS3 stands for " ADAM Metallopeptidase With Thrombospondin Type 1 Motif 3") is a protein coding gene located at chromosome 4q28.1. The ADAMTS3 gene encodes a member of the ADAMTS protein family (a disintegrin and metalloproteinase with thrombospondin motifs). Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs. Some have unique C-terminal domains. The encoded preprotein is proteolytically processed to generate the mature protease. This protease, a member of the procollagen aminopropeptidase subfamily, may play a role in the processing of type II fibrillar collagen.

General information
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Diseases associated with ADAMTS3 include:

  • Hennekam's lymphangiectasia-lymphoedema syndrome 3. Hennekam's lymphangiectasia-lymphoedema syndrome is an autosomal recessively inherited disorder characterized by generalized lymphoid dysplasia affecting multiple organs, including the intestinal tract, pericardium, and limbs. Other features of the disorder include facial dysmorphism and cognitive impairment (Alders et al. 2014).

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The phenotype "Hennekam lymphangiectasia lymphedema syndrome" is characterized by genetic heterogeneity.

  • Mutations in the CCBE1 gene cause Hennekam lymphangiectasia lymphedema syndrome type1 (HKLL type1; Connell F et al. 2010).
  • Mutation in the FAT4 gene (612411/chromosome 4q28) cause HKLLS type2 (616006).
  • Mutation in ADAMTS3 gene (605011) on chromosome 4q13 cause HKLLS type3 (618154).

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  1. Al-Gazali LI et al. (2003) Further delineation of Hennekam syndrome. Clin Dysmorph 12: 227-232.
  2. Alders M et al. (2014) Hennekam syndrome can be caused by FAT4 mutations and be allelic to Van Maldergem syndrome. Hum Genet 133: 1161-1167.
  3. Alders M et al (2009) Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans. Nature Genet 41: 1272-1274.
  4. Connell F et al (2010) Linkage and sequence analysis indicate that CCBE1 is mutated in recessively inherited generalised lymphatic dysplasia. Hum Genet 127: 231-241.
  5. Hennekam RCM et al (1989) Autosomal recessive intestinal lymphangiectasia and lymphedema, with facial anomalies and mental retardation. Am J Med Genet 34: 593-600.

Last updated on: 13.04.2022