Case report: Whole exome sequencing and genome-wide methylation profiling of Czech dysplasia in a Chinese pedigree.
Front Med (Lausanne)
; 10: 1244888, 2023.
Article
em En
| MEDLINE
| ID: mdl-38020103
ABSTRACT
Background:
Czech dysplasia is a rare skeletal disorder with symptomatology including platyspondyly, brachydactyly of the third and fourth toes, and early-onset progressive pseudorheumatoid arthritis. The disorder segregates in an autosomal dominant fashion. A specific missense mutation (R275C, c.823C > T) in exon 13 of the COL2A1 gene has been identified in German and Japanese families. Casesummary:
We present the case of a Chinese woman diagnosed with Czech dysplasia (proband) who carried a variant in the COL2A1 gene. Whole-exome sequencing (WES) identified the COL2A1 missense mutation (R275C, c.823C > T) in close relatives of the proband who also exhibited the same disorder.Conclusion:
This study is a thorough clinical and physiological description of Czech dysplasia in a Chinese patient.
Texto completo:
1
Coleções:
01-internacional
Temas:
Geral
Base de dados:
MEDLINE
Idioma:
En
Revista:
Front Med (Lausanne)
Ano de publicação:
2023
Tipo de documento:
Article
País de afiliação:
China