Obstetrics-Gynecology Ultrasound Unit, Bnai-Zion Medical Center and Rappoport Faculty of Medicine, The Technion, Haifa, Israel; Fetal Neurology Clinic, Obstetrics-Gynecology Ultrasound Unit, Department of Obstetrics and Gynecology, Wolfson Medical Center, Holon and Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel.
Institute of Human Genetics and Metabolic Disorders, Western Galilee Medical Center, Naharia and Faculty of Medicine in the Galilee, Bar Ilan University, Safed, Israel.
Eur J Paediatr Neurol. 2018 May;22(3):525-531. doi: 10.1016/j.ejpn.2017.12.012. Epub 2017 Dec 26.
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.
We analyzed prenatal and postnatal imaging data of patients from a consanguineous Israeli-Arab kindred harboring the DAG1 mutation.
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).
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.
阐述先前在一个近亲联姻的以色列-阿拉伯家庭中报道的 DAG1 中 c.743C > del 移码突变导致完全缺失 α-和 β-肌营养不良蛋白的纯合子相关的影像学表型。
我们分析了携带 DAG1 突变的以色列-阿拉伯系谱中患者的产前和产后影像学数据。
影像学研究（胎儿超声、CT 扫描和产后 MRI）显示：皮质平坦（MRI 上异常增厚，伴有不规则卵石状皮质-白质边界）、脑积水、散在的小室周异位和室管膜下出血和钙化、Z 字形脑干，此外还有枕部脑膨出、蚓部发育不全和延长增厚的小脑上蚓部（小脑脑桥发育不良）。
鹅卵石样畸形与小脑脑桥发育不良的新关联作为 WWS 的一部分，是 DAG1 基因中 c.743C > del 移码突变纯合子的特征。
