Expanding the genotypic and phenotypic landscapes of rhizomelic chondrodysplasia punctata type 3 (RCDP3) with two novel families, and a review of the literature

Autor: Ezgi Gökpınar İli, Alper Gezdirici, Erminia Di Pietro, Christine Yergeau, Nancy Braverman
Rok vydání: 2022
Předmět:
Zdroj: American Journal of Medical Genetics Part A. 188:3229-3235
ISSN: 1552-4833
1552-4825
DOI: 10.1002/ajmg.a.62959
Popis: 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+1GA, in the AGPS gene. We also present a review of previously reported RCDP3 patients.
Databáze: OpenAIRE
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