Geis, Tobias and Marquard, Klaus and Roedl, Tanja and Reihle, Christof and Schirmer, Sophie and von Kalle, Thekla and Bornemann, Antje and Hehr, Ute and Blankenburg, Markus (2013) Homozygous dystroglycan mutation associated with a novel muscle-eye-brain disease-like phenotype with multicystic leucodystrophy. NEUROGENETICS, 14 (3-4). pp. 205-213. ISSN 1364-6745, 1364-6753
Full text not available from this repository. (Request a copy)Abstract
Defects in dystroglycan post-translational modification result in congenital muscular dystrophy with or without additional eye and brain involvement, are referred to as secondary dystroglycanopathies and have been associated with mutations in 11 different genes encoding glycosyltransferases or associated proteins. However, only one patient with a mutation in the dystroglycan encoding gene DAG1 itself has been described before. We here report a homozygous novel DAG1 missense mutation c.2006G > T predicted to result in the amino acid substitution p.Cys669Phe in the beta-subunit of dystroglycan in two Libyan siblings. The affected girls presented with a severe muscle-eye-brain disease-like phenotype with distinct additional findings of macrocephaly and extended bilateral multicystic white matter disease, overlapping with the cerebral findings in patients with megalencephalic leucoencephalopathy with subcortical cysts. This novel clinical phenotype observed in our patients further expands the clinical spectrum of dystroglycanopathies and suggests a role of DAG1 not only for dystroglycanopathies but also for some forms of more extensive and multicystic leucodystrophy.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | CONGENITAL MUSCULAR-DYSTROPHY; WALKER-WARBURG-SYNDROME; ALPHA-DYSTROGLYCAN; DEFECTIVE GLYCOSYLATION; O-MANNOSYLATION; LAMA2 MUTATIONS; MEMBRANE; GENOTYPE; DELETION; COMPLEX; Dystroglycan; DAG1; Muscle-eye-brain disease (MEB); Multicystic leucodystrophy; Cystic white matter disease; Megalencephalic leucoencephalopathy with subcortical cysts (MLC) |
| Subjects: | 600 Technology > 610 Medical sciences Medicine |
| Divisions: | Medicine > Lehrstuhl für Humangenetik Medicine > Lehrstuhl für Kinder- und Jugendmedizin |
| Depositing User: | Dr. Gernot Deinzer |
| Date Deposited: | 25 Mar 2020 10:57 |
| Last Modified: | 25 Mar 2020 10:57 |
| URI: | https://pred.uni-regensburg.de/id/eprint/15760 |
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