A Missense Mutation in TRPS1 in a Family with Trichorhinophalangeal Syndrome Type III Accompanied by Ankylosing Spondylitis.
Xiaokai FangQing YangPublished in: Annals of dermatology (2022)
Trichorhinophalangeal syndrome (TRPS) is a rare autosomal dominant genetic disorder characterized by distinctive craniofacial features, skeletal abnormalities and short stature; it is classified into three subtypes according to genetics and clinical manifestations. We report a Han Chinese family with 2 TRPS type III patients, the proband and his mother, with typical clinical presentation. There were also 3 ankylosing spondylitis (AS) patients in this family, the proband's mother and 2 uncles. A missense mutation, c.2762G>A (p.Arg921Gln), in the transcriptional repressor GATA binding 1 ( TRPS1 ) gene was detected in the proband and his mother. The association between TRPS and AS and the diagnostic criteria for TRPS are discussed.
Keyphrases
- ankylosing spondylitis
- type iii
- end stage renal disease
- chronic kidney disease
- ejection fraction
- newly diagnosed
- rheumatoid arthritis
- disease activity
- transcription factor
- gene expression
- genome wide
- patient reported outcomes
- dna methylation
- oxidative stress
- systemic lupus erythematosus
- patient reported
- binding protein
- heat stress
- heat shock
- heat shock protein
- genome wide identification