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

Ili E., Gezdirici A., Di Pietro E., Yergeau C., Braverman N.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, cilt.188, sa.11, ss.3229-3235, 2022 (SCI-Expanded, Scopus) identifier identifier identifier

  • Yayın Türü: Makale / Derleme
  • Cilt numarası: 188 Sayı: 11
  • Basım Tarihi: 2022
  • Doi Numarası: 10.1002/ajmg.a.62959
  • Dergi Adı: AMERICAN JOURNAL OF MEDICAL GENETICS PART A
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Applied Science & Technology Source, BIOSIS, CAB Abstracts, EMBASE, MEDLINE
  • Sayfa Sayıları: ss.3229-3235
  • Ankara Üniversitesi Adresli: Hayır

Özet

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.