Lipodystrophy - childhood onset
Gene: MTX2The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 3 Mar 2022, 2:21 p.m. | Last Modified: 3 Mar 2022, 2:21 p.m.
Panel Version: 2.21
Comment on list classification: New gene added by Zornitza Stark. There is enough evidence to support a gene-disease association. This gene will be rated Amber and promoted to Green at the next review of the panel.Created: 6 Oct 2020, 10:11 a.m. | Last Modified: 6 Oct 2020, 10:11 a.m.
Panel Version: 2.6
Seven individuals from 5 unrelated families reported with severe progeroid form of MAD with growth retardation, small viscerocranium with mandibular underdevelopment, distal acro-osteolyses, lipodystrophy, altered skin pigmentation, renal focal glomerulosclerosis, and extremely severe hypertension in most cases, eventually associated with disseminated arterial calcification. Loss of MTX2 in patients' primary fibroblasts led to loss of Metaxin-1 (MTX1) and mitochondrial dysfunction, including network fragmentation and oxidative phosphorylation impairment. Furthermore, patients' fibroblasts were resistant to induced apoptosis, leading to increased cell senescence and mitophagy and reduced proliferation.
Sources: LiteratureCreated: 5 Oct 2020, 8:15 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mandibuloacral dysplasia; lipodystrophy; arterial calcification
Publications
Tag for-review was removed from gene: MTX2.
Source Expert Review Green was added to MTX2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag for-review tag was added to gene: MTX2.
Gene: mtx2 has been classified as Amber List (Moderate Evidence).
gene: MTX2 was added gene: MTX2 was added to Lipodystrophy - childhood onset. Sources: Literature Mode of inheritance for gene: MTX2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MTX2 were set to 32917887 Phenotypes for gene: MTX2 were set to Mandibuloacral dysplasia; lipodystrophy; arterial calcification Review for gene: MTX2 was set to GREEN