Expanding the genotypic and phenotypic landscapes of rhizomelic chondrodysplasia punctata type 3 (RCDP3) with two novel families, and a review of the literature.
Am J Med Genet A
; 188(11): 3229-3235, 2022 11.
Article
in En
| MEDLINE
| ID: mdl-35986576
ABSTRACT
Rhizomelic chondrodysplasia punctata (RCDP) are a group of peroxisomal disorders caused by plasmalogen synthesis defects. Patients with RCDP present with rhizomelic short stature, characteristic punctate epiphyseal calcifications, congenital cataracts, severe intellectual disability, seizures, and facial dysmorphism. Pathogenic variants in AGPS result in RCDP type 3 (RCDP3) which is an extremely rare disorder characterized by isolated ADHAPS deficiency. Six patients with RCDP3 have been identified, upto-date. We report two new patients with RCDP3 and their novel variants, c.154dupG (p.Ala52GlyfsTer6) and c.637+1G>A, in the AGPS gene. We also present a review of previously reported RCDP3 patients.
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Chondrodysplasia Punctata
/
Chondrodysplasia Punctata, Rhizomelic
/
Intellectual Disability
Type of study:
Prognostic_studies
Limits:
Humans
Language:
En
Journal:
Am J Med Genet A
Journal subject:
GENETICA MEDICA
Year:
2022
Type:
Article
Affiliation country:
Turkey