Arthrogryposis

Gene: ZMPSTE24

Green List (high evidence)

Severity of disease correlates with residual enzyme activity. Mandibuloacral dysplasia is the milder phenotype and is characterized by skeletal abnormalities including hypoplasia of the mandible and clavicles, acroosteolysis, cutaneous atrophy, and lipodystrophy. Results from one hylomorphic allele in trans with a second hylomorphic or null allele. 10 families reported.

Hutchinson-Guildford progeria syndrome, atypical: limited evidence of association, 2 cases reported. Intermediate between the two more common phenotypes. One of the cases had LMNA nonsense variant as well.

Restrictive dermatopathy, lethal: results from bi-allelic null alleles, tautness of the skin causes fetal akinesia or hypokinesia deformation sequence. 44 families reported, p.Leu362Phefs*18 identified in ~60%, founder effect in Mennonite and Hutterite populations.

Created: 7 Apr 2021, 8:51 p.m. | Last Modified: 7 Apr 2021, 8:51 p.m.

Panel Version: 0.256

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mandibuloacral dysplasia with type B lipodystrophy, MIM# 608612; MONDO:0012074; Restrictive dermopathy, lethal, MIM# 275210; MONDO:0010143

Publications

• 11923874
• 22718200
• 29794150
• 29208544
• 12913070
• 27410998
• 27409638
• 15937076
• 16671095
• 22718200
• 29794150
• 24169522