Walker-Warburg syndrome and tectocerebellar dysraphia: A novel association caused by a homozygous DAG1 mutation

Zvi Leibovitz, Hanna Mandel, Tzipora C. Falik-Zaccai, Shani Ben Harouch, David Savitzki, Karina Krajden-Haratz, Liat Gindes, Mordechai Tamarkin, Dorit Lev, William B. Dobyns, Tally Lerman-Sagie

Research output: Contribution to journalArticlepeer-review

5 Scopus citations

Abstract

Objectives: To elaborate the imaging phenotype associated with a homozygous c.743C > del frameshift mutation in DAG1 leading to complete absence of both α- and β-dystroglycan previously reported in a consanguineous Israeli-Arab family. Methods: We analyzed prenatal and postnatal imaging data of patients from a consanguineous Israeli-Arab kindred harboring the DAG1 mutation. Results: The imaging studies (fetal ultrasound, CT scan and postnatal MRI) demonstrated: flat cortex (abnormally thick with irregular pebbled cortical-white matter border on MRI), hydrocephalus, scattered small periventricular heterotopia and subependymal hemorrhages and calcifications, z-shaped brainstem, and in addition an occipital encephalocele, vermian agenesis, and an elongated and thick tectum (tectocerebellar dysraphia). Conclusions: The novel association of cobblestone malformation with tectocerebellar dysraphia as part of WWS is characteristic of the homozygous c.743C > del frameshift mutation in the DAG1 gene.

Original languageEnglish (US)
Pages (from-to)525-531
Number of pages7
JournalEuropean Journal of Paediatric Neurology
Volume22
Issue number3
DOIs
StatePublished - May 2018
Externally publishedYes

Keywords

  • Cobblestone malformation complex
  • DAG1
  • Dystroglycan
  • Tectocerebellar dysraphia
  • Walker-Warburg syndrome

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