Indian patients with CHST3-related chondrodysplasia with congenital joint dislocations.
CHST3
chondrodysplasia with congenital joint dislocations
congenital joint dislocations
short stature
Journal
American journal of medical genetics. Part A
ISSN: 1552-4833
Titre abrégé: Am J Med Genet A
Pays: United States
ID NLM: 101235741
Informations de publication
Date de publication:
24 Oct 2023
24 Oct 2023
Historique:
revised:
13
09
2023
received:
29
05
2023
accepted:
20
09
2023
medline:
25
10
2023
pubmed:
25
10
2023
entrez:
25
10
2023
Statut:
aheadofprint
Résumé
CHST3-related chondrodysplasia with congenital joint dislocations (CDCJD, #MIM 143095), is a rare genetic skeletal disorder caused by biallelic loss of function variants in CHST3. CHST3 is critical for the sulfation of chondroitin sulfate. This study delineates the clinical presentation of nine individuals featuring the key symptoms of CDCJD; congenital joint (knee and elbow) dislocations, short trunk short stature progressive vertebral anomalies, and metacarpal shortening. Additional manifestations include irregular distal femoral epiphysis, supernumerary carpal ossification centers, bifid humerus, club foot, and cardiac abnormalities. Sanger sequencing was carried out to investigate molecular etiology in eight patients and exome sequencing in one. Genetic testing revealed five homozygous variants in CHST3 (four were novel and one was previously reported). All these variants are located on sulfotransferase domain of CHST3 protein and were classified as pathogenic/ likely pathogenic. We thus report on nine individuals with CHST3-related chondrodysplasia with congenital joint dislocations from India and suggest monitoring the health of cardiac valves in this condition.
Identifiants
pubmed: 37876363
doi: 10.1002/ajmg.a.63422
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : Council of Scientific and Industrial Research, India
Organisme : Department of Science and Technology, Ministry of Science and Technology, India
Informations de copyright
© 2023 Wiley Periodicals LLC.
Références
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