Variable expressivity in a family with an aggrecanopathy.
Mol Genet Genomic Med
; 10(1): e1773, 2022 01.
Article
de En
| MEDLINE
| ID: mdl-34894100
ABSTRACT
BACKGROUND:
Osteochondritis dissecans is a condition wherein there is a subchondral bone lesion that causes pain, inflammation, and cartilage damage. Dominant Familial Osteochondritis Dissecans is a rare and severe form of osteochondritis dissecans (OCD). It is caused by heterozygous pathogenic variants in the gene encoding Aggrecan; ACAN. Aggrecan, a proteoglycan, is an essential component of the articular and growth plate cartilage.METHODS:
Herein, we report three individuals from one family; the proband who presented with short stature, a lower limb bone exostosis, and bilateral knee and elbow OCD at the age of 13 years old. His twin brother presented with isolated short stature and his father with short stature and lumbar disc herniation.RESULTS:
Next-generation sequencing of the ACAN gene in the proband identified a frameshift variant which is also present in the brother and father with short stature. The proband was treated surgically with bilateral elbow microfracture, after the failure of conservative therapy.CONCLUSION:
To the best of our knowledge, this is the first patient with an aggrecanopathy who presents with osteochondritis dissecans due to a frameshift variant. This family presents with variable expressivity which might be attributed to modifier genes.Mots clés
Texte intégral:
1
Collection:
01-internacional
Base de données:
MEDLINE
Sujet principal:
Ostéochondrite disséquante
/
Nanisme
/
Déplacement de disque intervertébral
Type d'étude:
Prognostic_studies
Limites:
Adolescent
/
Humans
/
Male
Langue:
En
Journal:
Mol Genet Genomic Med
Année:
2022
Type de document:
Article
Pays d'affiliation:
Canada