A new family with autosomal dominant porencephaly with a novel COL4A1 mutation. Are arachnoid cysts related to COL4A1 mutations?

Deǧerliyurt A., CEYLANER G., Koçak H., Bilginer Gürbüz B., Cihan B., Rizzu P., ...More

Genetic Counseling, vol.23, no.2, pp.185-193, 2012 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 23 Issue: 2
  • Publication Date: 2012
  • Journal Name: Genetic Counseling
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.185-193
  • Keywords: Porencephaly, Col4A1, Mutation, Arachnoid Cyst, CLINICAL-FEATURES, STROKE, ONSET
  • Lokman Hekim University Affiliated: Yes


Porencephaly is an extensively encountered condition in pediatric neurology practice and leads to serious morbidity with its complications. Important etiological factors are trauma, hemorrhage, infection and thrombophilic factors that may cause destruction in the developing brain. Col4A1 mutations were also shown in familial porencephaly cases. We describe two siblings with porencephaly, hemiparesis, epilepsy, atrophic kidney in one of the siblings and asymptomatic mothers with an arachnoid cyst. We performed Col4A1 gene mutation screening and detected a novel mutation in mother and both of the children. This family has some features previously undescribed in patients with mutations of Col4A1 gene like atrophic kidney in one sibling and arachnoid cyst in the mother. We discuss here the possible relationship between these abnormalities and the mutation.