Czeschik, Johanna Christina and Hehr, Ute and Hartmann, Britta and Luedecke, Hermann-Josef and Rosenbaum, Thorsten and Schweiger, Bernd and Wieczorek, Dagmar (2013) 160 kb deletion in ISPD unmasking a recessive mutation in a patient with Walker-Warburg syndrome. EUROPEAN JOURNAL OF MEDICAL GENETICS, 56 (12). pp. 689-694. ISSN 1769-7212, 1878-0849
Full text not available from this repository. (Request a copy)Abstract
Walker-Warburg syndrome (WWS) is a severe muscular dystrophy with eye and brain malformations. On a molecular level, WWS is a disorder of the O-linked glycosylation of alpha-dystroglycan and therefore referred to as one of the dystroglycanopathies. The disease family of muscular dystrophy-dystroglycanopathy (MDDG) contains a spectrum of severe to mild disorders, designated as MDDG type A to C. WWS, as the most severe manifestation, corresponds to MDDG type A. Defects in the genes POMT1, POMT2, POMGNT1, FKTN, FKRP, LARGE, GTDC2, G3GALNT2, GMPPB, B3GNT1, TMEM5 and COL4A1 and ISPD have been described as causal for several types of MDDG including WWS, but can only be confirmed in about 60-70% of the clinically diagnosed individuals. The proteins encoded by these genes are involved in the posttranslational modification of alpha-dystroglycan. Mutations in POMT1, POMT2, POMGNT1, FKTN, FKRP, LARGE, GMPPB, TMEM5 and COL4A1 and ISPD lead to a wide spectrum of phenotypes of congenital muscular dystrophies with or without eye and brain abnormalities. Patients with WWS frequently demonstrate a complete lack of psychomotor development, severe eye malformations, cobblestone lissencephaly and a hypoplastic cerebellum and brainstem, seizures, hydrocephalus and poor prognosis. Here, we present a boy with WWS who showed compound heterozygous changes in ISPD and discuss the clinical and radiological phenotype and the molecular genetic findings, including a novel pathogenic mutation in ISPD. (C) 2013 Published by Elsevier Masson SAS.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | GIRDLE MUSCULAR-DYSTROPHY; ALPHA-DYSTROGLYCAN; MISSENSE MUTATIONS; GENE; ISPD; Walker-Warburg syndrome; Dystroglycanopathy; Hydrocephalus; Seizures; Cerebellar hypoplasia; Corpus callosum agenesis |
| Subjects: | 600 Technology > 610 Medical sciences Medicine |
| Divisions: | Medicine > Lehrstuhl für Humangenetik |
| Depositing User: | Dr. Gernot Deinzer |
| Date Deposited: | 01 Apr 2020 08:32 |
| Last Modified: | 01 Apr 2020 08:32 |
| URI: | https://pred.uni-regensburg.de/id/eprint/15603 |
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