Skeletal dysplasia

Gene: ADAMTS17

Green List (high evidence)

Acromelic dysplasias gp of SD. AR - listed in Acromelic dysplasias gp of SD. Mutations reported in at least 3 unrelated cases.; Review on behalf of Tracy Lester

Created: 6 Mar 2019, 11:44 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Weill-Marchesani syndrome type 4

I don't know

Comment on list classification: More than 3 cases reported with patients with short stature.

Created: 17 Jul 2019, 1:18 p.m. | Last Modified: 17 Jul 2019, 1:18 p.m.

Panel Version: 1.188

Associated with Weill-Marchesani 4 syndrome, recessive #613195 in OMIM. This condition is characterized by short stature and brachydactyly as well as eye-associated clinical features.

PMID: 19836009 - Morales et al. 2009 - 3 cases from Saudi Arabia, 2 familial and 1 sporadic. 7 affected individuals. All had short stature and ocular manifestations but not brachydactyly so are described as WMS-like. 3 different homozygous variants were detected (1 bp insertion, a splice-site mutation, and a nonsense mutation).

PMID: 22486325 - Khan et al. 2012 - 1 case. A sister and brother with WMS from a consanguineous Saudi family were found to have a 1-bp deletion that segregated with disease. The probands presented with high myopia and had spherophakia. Although both had short stature, neither had short hands, short feet, joint stiffness, or non-ocular congenital abnormalities

PMID: 24940034 - Shah et al. 2014 - 1 case. In an Indian family WES analysis identified a homozygous novel splice-site mutation c.873+1G>T in ADAMTS1 in a 21 year old proband. RT-PCR analysis in the patient showed that exon 5 was skipped, which resulted in the deletion of 28 amino acids in the ADAMTS17 protein. The proband presented with decreased vision. She had short stature, brachydactyly, but no joint stiffness.

PMID: 31019231 - Yi et al 2019 - 1 case. In a consanguineous Chinese family, a nonsense mutation c.1051 A > T in ADAMTS17 was identified. (Abstract only accessed).

More than 3 cases. Short stature reported but brachydactyly only in 1 case.

Created: 17 Jul 2019, 10:25 a.m. | Last Modified: 17 Jul 2019, 10:25 a.m.

Panel Version: 1.172

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: ADAMTS17; Initial rating suggestion: green

Created: 6 Mar 2019, 11:36 a.m.