TY - JOUR
T1 - Walker-Warburg syndrome and tectocerebellar dysraphia
T2 - A novel association caused by a homozygous DAG1 mutation
AU - Leibovitz, Zvi
AU - Mandel, Hanna
AU - Falik-Zaccai, Tzipora C.
AU - Ben Harouch, Shani
AU - Savitzki, David
AU - Krajden-Haratz, Karina
AU - Gindes, Liat
AU - Tamarkin, Mordechai
AU - Lev, Dorit
AU - Dobyns, William B.
AU - Lerman-Sagie, Tally
N1 - Publisher Copyright:
© 2017 European Paediatric Neurology Society
PY - 2018/5
Y1 - 2018/5
N2 - 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.
AB - 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.
KW - Cobblestone malformation complex
KW - DAG1
KW - Dystroglycan
KW - Tectocerebellar dysraphia
KW - Walker-Warburg syndrome
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U2 - 10.1016/j.ejpn.2017.12.012
DO - 10.1016/j.ejpn.2017.12.012
M3 - Article
C2 - 29337005
AN - SCOPUS:85040358194
SN - 1090-3798
VL - 22
SP - 525
EP - 531
JO - European Journal of Paediatric Neurology
JF - European Journal of Paediatric Neurology
IS - 3
ER -