Skeletal dysplasiaGene: ADAMTS10
Acromelic dysplasias gp of SD. AR - listed in Acromelic dysplasias gp of SD. Mutations reported in at least 3 unrelated cases (Omim) .; Review on behalf of Tracy Lester
Created: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Weill-Marchesani syndrome type 1
Comment on list classification: Changing rating from red to green as there are more than 3 cases with variants in ADAMS10 in patients with Weill-Marchesani syndrome. Plus a mouse model with a WMS associated truncating mutation has a skeletal phenotype.
Created: 17 Jul 2019, 9:17 a.m. | Last Modified: 17 Jul 2019, 9:17 a.m.
Panel Version: 1.169
Associated with Weill-Marchesani syndrome 1, recessive (#277600) in OMIM.
PMID: 15368195 - Dagoneau et al. 2004 - 3 cases. following homozygosity-mapping strategy in two consanguineous families from Lebanon and Saudi Arabia with Weill-Marchesani syndrome they selected ADAMTS10 for further sequencing. They found three distinct mutations of the ADAMTS10 gene in these two families and in one sporadic WMS case (one nonsense mutation (R237X) and two splice-site mutations). The variants segregated with the disease in the familial cases. All probands fulfilled the criteria for WMS with short stature, brachydactyly, limitation of joint movement, microspherophakia, dislocated lenses, severe myopia, and glaucoma.
PMID: 19836009 - Morales et al. 2009 - 2 cases. Two families which met the diagnostic criteria for WMS were each found to have a different homozygous missense mutation in ADAMTS10 (c.1553 G > A (p.G518D) and c.2098 G > T (p.G700C)).
PMID: 30060141 - Mularczyk et al 2018 - A mouse model containing a truncation mutation on ADAMS10 seen in WMS patients was created. Homozygous WMS mice are smaller and have shorter long bones with perturbation to the zones of the developing growth plate and changes in cell proliferation.
Created: 17 Jul 2019, 9:16 a.m. | Last Modified: 17 Jul 2019, 9:16 a.m.
Panel Version: 1.168
This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: ADAMTS10; Initial rating suggestion: green
Created: 6 Mar 2019, 11:36 a.m.
Phenotypes for gene: ADAMTS10 were changed from Weill-Marchesani syndrome type 1 to Weill-Marchesani syndrome 1, recessive, 277600
Publications for gene: ADAMTS10 were set to
Mode of inheritance for gene: ADAMTS10 was changed from to BIALLELIC, autosomal or pseudoautosomal
Gene: adamts10 has been classified as Green List (High Evidence).
Added phenotypes Weill-Marchesani syndrome type 1 for gene: ADAMTS10
gene: ADAMTS10 was added gene: ADAMTS10 was added to Skeletal dysplasia. Sources: NHS GMS Mode of inheritance for gene: ADAMTS10 was set to