LAMB2 gene: broad clinical spectrum in Pierson syndrome

LEVENTOĞLU E., DÖNMEZ E., UZUN KENAN B., YAZICIOĞLU B., BÜYÜKKARAGÖZ B., Fidan K., ...Daha Fazla

CEN Case Reports, cilt.13, sa.4, ss.258-263, 2024 (ESCI) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 13 Sayı: 4
  • Basım Tarihi: 2024
  • Doi Numarası: 10.1007/s13730-023-00838-y
  • Dergi Adı: CEN Case Reports
  • Derginin Tarandığı İndeksler: Emerging Sources Citation Index (ESCI), Scopus
  • Sayfa Sayıları: ss.258-263
  • Anahtar Kelimeler: Congenital nephrotic syndrome, Ocular anomaly, Pediatrics
  • Gazi Üniversitesi Adresli: Evet

Özet

Pierson syndrome (PS) is a rare autosomal recessive disease, characterized by congenital nephrotic syndrome (CNS), and ocular and neurologic abnormalities. In affected cases, there is abnormal b-2 laminin which is compound of the several basement membranes caused by inherited mutations in the LAMB2 gene. Although patients have mutations in the same gene, the phenotype is highly variable. In this case series, the relationship between genotype and phenotype is emphasized, and information about the clinical follow-up of the patients is presented. Hereby, we report four pediatric cases with PS as a result of mutation in the LAMB2 gene. Clinical spectrum of LAMB2-associated disorders varies from mild-to-severe ocular, kidney, and neurologic involvement. Since genotype–phenotype correlation in PS has not been clearly demonstrated, we recommend that all patients with ophthalmic anomalies and glomerular proteinuria should be tested for LAMB2 mutations.