A homozygote frameshift mutation in OCLN gene result in Pseudo-TORCH syndrome type I: A case report extending the phenotype with central diabetes insipidus and renal dysfunction

EKİNCİ F., YILDIZDAŞ R. D., ÖZGÜR HOROZ Ö., Herguner O., BİŞGİN A.

EUROPEAN JOURNAL OF MEDICAL GENETICS, cilt.63, sa.6, 2020 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 63 Sayı: 6
  • Basım Tarihi: 2020
  • Doi Numarası: 10.1016/j.ejmg.2020.103923
  • Dergi Adı: EUROPEAN JOURNAL OF MEDICAL GENETICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, BIOSIS, EMBASE, MEDLINE
  • Anahtar Kelimeler: Diabetes insipidus, Intracranial calcification, Microcephaly, Polymicrogyria, Pseudo-TORCH, BAND-LIKE CALCIFICATION, AICARDI-GOUTIERES SYNDROME, SIMPLIFIED GYRATION, SUBEPENDYMAL CALCIFICATION, HEMORRHAGIC DESTRUCTION, POLYMICROGYRIA REPORT, OCCLUDIN, BRAIN, PROTEIN, DISEASE
  • Çukurova Üniversitesi Adresli: Evet

Özet

Intrauterine infections with the pathogens, including toxoplasmosis, other (syphilis, varicella, mumps, parvovirus, and HIV), rubella, cytomegalovirus, and herpes simplex (TORCH) in susceptible individuals during pregnancy, result in microcephaly, white matter disease, cerebral atrophy, and calcifications in the fetus. Pseudo-TORCH syndrome is an umbrella term, consisting of several syndromes, resultant from different genetic alterations and pathogenetic mechanisms. Band-like calcification with simplified gyration and polymicrogyria (BLC-PMG) is one of these conditions, resultant from biallelic mutations in the OCLN gene, located in the chromosome 5q13.2. OCLN gene encodes occludin, a tight junction protein, which is expressed in the endothelia. The absence of occludin in the developing brain subsequently results in abnormal blood-brain barrier, thus immune-cell mediated tissue damage and cortical malformation.