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Assessment of fetal brain abnormalities
Published in Hung N. Winn, Frank A. Chervenak, Roberto Romero, Clinical Maternal-Fetal Medicine Online, 2021
Lissencephaly type I shows a smooth surface of the brain and cerebral wall is similar to that of an approximately 12-week-old fetus (43). Isolated lissencephaly (Fig. 7) or Miller–Dieker syndrome is associated with additional craniofacial abnormalities, cardiac anomalies, genital anomalies, sacral dimple, creases, and/or clinodactyly. Lissencephaly type II shows cobblestone appearance. Walker–Warburg syndrome with macrocephaly, congenital muscular dystrophy, cerebellar malformation, and retinal malformation or Fukuyama congenital muscular dystrophy with microcephaly and congenital muscular dystrophy has been proven.
Central nervous system: Paediatric and neurodevelopmental disorders
Published in Angus Clarke, Alex Murray, Julian Sampson, Harper's Practical Genetic Counselling, 2019
This group contains various disorders affecting cerebral gyral development, including microdeletions of chromosome 17p (Miller-Dieker syndrome), classical ‘type 1’ lissencephaly involving specific genes in the same 17p region, and an important X-linked type, with female ‘carriers’ of mutations in the filamin A gene often showing subcortical band heterotopia and some having mild intellectual problems and epilepsy. It is important to base a specific diagnosis on a combination of neuroradiological, molecular and clinical criteria. The Walker-Warburg syndrome and the related muscle-eye-brain disease include lissencephaly and cerebellar hypoplasia along with a congenital muscular dystrophy and eye anomalies.
Paediatric Neurology
Published in John W. Scadding, Nicholas A. Losseff, Clinical Neurology, 2011
In Walker–Warburg syndrome, the cortex is thickened, sulci are shallow, meninges thickened and the cerebellum is small with an absent vermis. Hydrocephalus is commonly associated along with eye malformations – retinal dysplasia and microphthalmia. This condition and Fukuyama congenital muscular dystrophy are members of the cobblestone complex in which the glial limiting membrane fails to prevent migration of neurones into the subpial space.
B4GAT1 Gene Associated Congenital Muscular Dystrophy Presenting with Recurrent Severe Ventriculomegaly: Case Report and Review of Literature
Published in Fetal and Pediatric Pathology, 2022
Meenakshi Lallar, Ladbans Kaur, Meetan Preet, U. P. Singh
Two homozygous missense variations in exon 2 of the B4GAT1 (previously called B3GNT1) gene were identified- p.Asn390Aspand p.Ala406Val. These variants have not been reported in the 1000 genomes and gnomAD databases and have a minor allele frequency of 0.001% in the Indian internal database. The in silico predictions of the variant are possibly damaging by PolyPhen-2 (HumDiv), damaging by SIFT, LRT, and MutationTaster2. The reference codon is conserved across mammals. The observed variations lie in the glycosyl-transferase for the dystroglycan domain of the B4GAT1 protein. These have previously been reported in patients affected with homozygous Walker-Warburg syndrome. Overexpression of wild type and mutant B4GAT1was tested in human PC3 cells and showed these mutations impair the function of B3GNT1 [5]. Sanger sequencing for these variants was done and the same homozygous mutations were detected in the other affected fetus and parents were heterozygous for both mutations.
Fetal Presentation of Walker-Warburg Syndrome with Compound Heterozygous POMT2 Missense Mutations
Published in Fetal and Pediatric Pathology, 2023
Silvia Zago, Evelina Silvestri, Tiziana Arcangeli, Marina Calisesi, Chiara Romeo, Giulia Parmeggiani, Elena Parrini, Valentina Cetica, Renzo Guerrini, Andrea Palicelli, Maria Paola Bonasoni
Clinical phenotypes of DGPs range from severe to mild entities. The most severe phenotype includes muscular dystrophy with dystroglycanopathy type A (MDDG type A), in which congenital muscular dystrophy (CMD) is associated with brain and eye abnormalities, including Walker-Warburg syndrome (WWS), muscle-eye-brain disease (MEB), and Fukuyama CMD (FCMD). The intermediate type, also defined as muscular dystrophy with dystroglycanopathy type B (MDDG type B), includes CMD with or without intellectual disability. The milder type, muscular dystrophy with dystroglycanopathy type C (MDDG type C), is limb-girdle muscular dystrophy (LGMD). No well-known genotype-phenotype correlation has been clearly defined [4].