Aortopathy_Connective Tissue Disorders
Gene: PIEZO2
1 individual diagnosed with Marden-Walker syndrome was described with a de novo missense variant in this gene (PMID: 24726473). This is the only literature supporting this gene-disease association. One other proband with MWS did not have a variant in this gene although the authors note that their sequencing strategy would not have been able to detect some indels including single-exon deletions.
The same study reported that another 10 families/individuals with Gordon syndrome (distal arthrogryposis type 3) and 24 with distal atrogryposis type 5 had variants in this gene. The authors posit that these three conditions represent a spectrum of disease.
Marden-Walker syndrome is described as a connective tissue disorder (https://rarediseases.info.nih.gov/diseases/6973/marden-walker-syndrome) and has significant overlap with other multi-system congenital contracture syndromes including D4ST1-Deficient Ehlers-Danlos syndrome (adducted thumb-clubfoot syndrome) (PMID: 27375131). GEL has this gene as Amber in the EDS panel noting some overlap with Kyphoscoliotic EDS in terms of scoliosis.
Sources: LiteratureCreated: 8 Jul 2020, 1:47 a.m. | Last Modified: 8 Jul 2020, 1:54 a.m.
Panel Version: 0.138
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Marden-Walker syndrome (MIM#248700); Arthrogryposis, distal, type 3 (MIM#114300); Arthrogryposis, distal, type 5 (MIM#108145)
Publications
Variants in this GENE are reported as part of current diagnostic practice
Gene: piezo2 has been classified as Amber List (Moderate Evidence).
Gene: piezo2 has been classified as Amber List (Moderate Evidence).
gene: PIEZO2 was added gene: PIEZO2 was added to Aortopathy_Connective Tissue Disorders. Sources: Literature Mode of inheritance for gene: PIEZO2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PIEZO2 were set to 24726473 Phenotypes for gene: PIEZO2 were set to Marden-Walker syndrome (MIM#248700); Arthrogryposis, distal, type 3 (MIM#114300); Arthrogryposis, distal, type 5 (MIM#108145) Review for gene: PIEZO2 was set to AMBER gene: PIEZO2 was marked as current diagnostic