Homozygous dystroglycan mutation associated with a novel muscle–eye–brain disease-like phenotype with multicystic leucodystrophy
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...
Ausführliche Beschreibung
Gespeichert in:
| Autor*in: |
Geis, Tobias [verfasserIn] Marquard, Klaus [verfasserIn] Rödl, Tanja [verfasserIn] Reihle, Christof [verfasserIn] Schirmer, Sophie [verfasserIn] von Kalle, Thekla [verfasserIn] Bornemann, Antje [verfasserIn] Hehr, Ute [verfasserIn] Blankenburg, Markus [verfasserIn] |
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| Format: |
E-Artikel |
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| Sprache: |
Englisch |
| Erschienen: |
2013 |
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| Schlagwörter: |
Muscle–eye–brain disease (MEB) Megalencephalic leucoencephalopathy with subcortical cysts (MLC) |
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| Übergeordnetes Werk: |
Enthalten in: Neurogenetics - Springer-Verlag, 2001, 14(2013), 3-4 vom: 20. Sept., Seite 205-213 |
|---|---|
| Übergeordnetes Werk: |
volume:14 ; year:2013 ; number:3-4 ; day:20 ; month:09 ; pages:205-213 |
| Links: |
|---|
| DOI / URN: |
10.1007/s10048-013-0374-9 |
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SPR00823339X |
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| 520 | |a 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 β-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. | ||
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10.1007/s10048-013-0374-9 doi (DE-627)SPR00823339X (SPR)s10048-013-0374-9-e DE-627 ger DE-627 rakwb eng Geis, Tobias verfasserin aut Homozygous dystroglycan mutation associated with a novel muscle–eye–brain disease-like phenotype with multicystic leucodystrophy 2013 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier 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 β-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. Dystroglycan (dpeaa)DE-He213 DAG1 (dpeaa)DE-He213 Muscle–eye–brain disease (MEB) (dpeaa)DE-He213 Multicystic leucodystrophy (dpeaa)DE-He213 Cystic white matter disease (dpeaa)DE-He213 Megalencephalic leucoencephalopathy with subcortical cysts (MLC) (dpeaa)DE-He213 Marquard, Klaus verfasserin aut Rödl, Tanja verfasserin aut Reihle, Christof verfasserin aut Schirmer, Sophie verfasserin aut von Kalle, Thekla verfasserin aut Bornemann, Antje verfasserin aut Hehr, Ute verfasserin aut Blankenburg, Markus verfasserin aut Enthalten in Neurogenetics Springer-Verlag, 2001 14(2013), 3-4 vom: 20. Sept., Seite 205-213 (DE-627)SPR00822823X nnns volume:14 year:2013 number:3-4 day:20 month:09 pages:205-213 https://dx.doi.org/10.1007/s10048-013-0374-9 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA AR 14 2013 3-4 20 09 205-213 |
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10.1007/s10048-013-0374-9 doi (DE-627)SPR00823339X (SPR)s10048-013-0374-9-e DE-627 ger DE-627 rakwb eng Geis, Tobias verfasserin aut Homozygous dystroglycan mutation associated with a novel muscle–eye–brain disease-like phenotype with multicystic leucodystrophy 2013 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier 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 β-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. Dystroglycan (dpeaa)DE-He213 DAG1 (dpeaa)DE-He213 Muscle–eye–brain disease (MEB) (dpeaa)DE-He213 Multicystic leucodystrophy (dpeaa)DE-He213 Cystic white matter disease (dpeaa)DE-He213 Megalencephalic leucoencephalopathy with subcortical cysts (MLC) (dpeaa)DE-He213 Marquard, Klaus verfasserin aut Rödl, Tanja verfasserin aut Reihle, Christof verfasserin aut Schirmer, Sophie verfasserin aut von Kalle, Thekla verfasserin aut Bornemann, Antje verfasserin aut Hehr, Ute verfasserin aut Blankenburg, Markus verfasserin aut Enthalten in Neurogenetics Springer-Verlag, 2001 14(2013), 3-4 vom: 20. Sept., Seite 205-213 (DE-627)SPR00822823X nnns volume:14 year:2013 number:3-4 day:20 month:09 pages:205-213 https://dx.doi.org/10.1007/s10048-013-0374-9 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA AR 14 2013 3-4 20 09 205-213 |
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10.1007/s10048-013-0374-9 doi (DE-627)SPR00823339X (SPR)s10048-013-0374-9-e DE-627 ger DE-627 rakwb eng Geis, Tobias verfasserin aut Homozygous dystroglycan mutation associated with a novel muscle–eye–brain disease-like phenotype with multicystic leucodystrophy 2013 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier 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 β-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. Dystroglycan (dpeaa)DE-He213 DAG1 (dpeaa)DE-He213 Muscle–eye–brain disease (MEB) (dpeaa)DE-He213 Multicystic leucodystrophy (dpeaa)DE-He213 Cystic white matter disease (dpeaa)DE-He213 Megalencephalic leucoencephalopathy with subcortical cysts (MLC) (dpeaa)DE-He213 Marquard, Klaus verfasserin aut Rödl, Tanja verfasserin aut Reihle, Christof verfasserin aut Schirmer, Sophie verfasserin aut von Kalle, Thekla verfasserin aut Bornemann, Antje verfasserin aut Hehr, Ute verfasserin aut Blankenburg, Markus verfasserin aut Enthalten in Neurogenetics Springer-Verlag, 2001 14(2013), 3-4 vom: 20. Sept., Seite 205-213 (DE-627)SPR00822823X nnns volume:14 year:2013 number:3-4 day:20 month:09 pages:205-213 https://dx.doi.org/10.1007/s10048-013-0374-9 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA AR 14 2013 3-4 20 09 205-213 |
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10.1007/s10048-013-0374-9 doi (DE-627)SPR00823339X (SPR)s10048-013-0374-9-e DE-627 ger DE-627 rakwb eng Geis, Tobias verfasserin aut Homozygous dystroglycan mutation associated with a novel muscle–eye–brain disease-like phenotype with multicystic leucodystrophy 2013 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier 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 β-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. Dystroglycan (dpeaa)DE-He213 DAG1 (dpeaa)DE-He213 Muscle–eye–brain disease (MEB) (dpeaa)DE-He213 Multicystic leucodystrophy (dpeaa)DE-He213 Cystic white matter disease (dpeaa)DE-He213 Megalencephalic leucoencephalopathy with subcortical cysts (MLC) (dpeaa)DE-He213 Marquard, Klaus verfasserin aut Rödl, Tanja verfasserin aut Reihle, Christof verfasserin aut Schirmer, Sophie verfasserin aut von Kalle, Thekla verfasserin aut Bornemann, Antje verfasserin aut Hehr, Ute verfasserin aut Blankenburg, Markus verfasserin aut Enthalten in Neurogenetics Springer-Verlag, 2001 14(2013), 3-4 vom: 20. Sept., Seite 205-213 (DE-627)SPR00822823X nnns volume:14 year:2013 number:3-4 day:20 month:09 pages:205-213 https://dx.doi.org/10.1007/s10048-013-0374-9 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA AR 14 2013 3-4 20 09 205-213 |
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10.1007/s10048-013-0374-9 doi (DE-627)SPR00823339X (SPR)s10048-013-0374-9-e DE-627 ger DE-627 rakwb eng Geis, Tobias verfasserin aut Homozygous dystroglycan mutation associated with a novel muscle–eye–brain disease-like phenotype with multicystic leucodystrophy 2013 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier 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 β-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. Dystroglycan (dpeaa)DE-He213 DAG1 (dpeaa)DE-He213 Muscle–eye–brain disease (MEB) (dpeaa)DE-He213 Multicystic leucodystrophy (dpeaa)DE-He213 Cystic white matter disease (dpeaa)DE-He213 Megalencephalic leucoencephalopathy with subcortical cysts (MLC) (dpeaa)DE-He213 Marquard, Klaus verfasserin aut Rödl, Tanja verfasserin aut Reihle, Christof verfasserin aut Schirmer, Sophie verfasserin aut von Kalle, Thekla verfasserin aut Bornemann, Antje verfasserin aut Hehr, Ute verfasserin aut Blankenburg, Markus verfasserin aut Enthalten in Neurogenetics Springer-Verlag, 2001 14(2013), 3-4 vom: 20. Sept., Seite 205-213 (DE-627)SPR00822823X nnns volume:14 year:2013 number:3-4 day:20 month:09 pages:205-213 https://dx.doi.org/10.1007/s10048-013-0374-9 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA AR 14 2013 3-4 20 09 205-213 |
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Geis, Tobias |
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Geis, Tobias misc Dystroglycan misc DAG1 misc Muscle–eye–brain disease (MEB) misc Multicystic leucodystrophy misc Cystic white matter disease misc Megalencephalic leucoencephalopathy with subcortical cysts (MLC) Homozygous dystroglycan mutation associated with a novel muscle–eye–brain disease-like phenotype with multicystic leucodystrophy |
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Homozygous dystroglycan mutation associated with a novel muscle–eye–brain disease-like phenotype with multicystic leucodystrophy Dystroglycan (dpeaa)DE-He213 DAG1 (dpeaa)DE-He213 Muscle–eye–brain disease (MEB) (dpeaa)DE-He213 Multicystic leucodystrophy (dpeaa)DE-He213 Cystic white matter disease (dpeaa)DE-He213 Megalencephalic leucoencephalopathy with subcortical cysts (MLC) (dpeaa)DE-He213 |
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misc Dystroglycan misc DAG1 misc Muscle–eye–brain disease (MEB) misc Multicystic leucodystrophy misc Cystic white matter disease misc Megalencephalic leucoencephalopathy with subcortical cysts (MLC) |
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misc Dystroglycan misc DAG1 misc Muscle–eye–brain disease (MEB) misc Multicystic leucodystrophy misc Cystic white matter disease misc Megalencephalic leucoencephalopathy with subcortical cysts (MLC) |
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misc Dystroglycan misc DAG1 misc Muscle–eye–brain disease (MEB) misc Multicystic leucodystrophy misc Cystic white matter disease misc Megalencephalic leucoencephalopathy with subcortical cysts (MLC) |
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Homozygous dystroglycan mutation associated with a novel muscle–eye–brain disease-like phenotype with multicystic leucodystrophy |
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Homozygous dystroglycan mutation associated with a novel muscle–eye–brain disease-like phenotype with multicystic leucodystrophy |
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Geis, Tobias Marquard, Klaus Rödl, Tanja Reihle, Christof Schirmer, Sophie von Kalle, Thekla Bornemann, Antje Hehr, Ute Blankenburg, Markus |
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10.1007/s10048-013-0374-9 |
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homozygous dystroglycan mutation associated with a novel muscle–eye–brain disease-like phenotype with multicystic leucodystrophy |
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Homozygous dystroglycan mutation associated with a novel muscle–eye–brain disease-like phenotype with multicystic leucodystrophy |
| abstract |
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 β-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. |
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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 β-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. |
| abstract_unstemmed |
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 β-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. |
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Homozygous dystroglycan mutation associated with a novel muscle–eye–brain disease-like phenotype with multicystic leucodystrophy |
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https://dx.doi.org/10.1007/s10048-013-0374-9 |
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Marquard, Klaus Rödl, Tanja Reihle, Christof Schirmer, Sophie von Kalle, Thekla Bornemann, Antje Hehr, Ute Blankenburg, Markus |
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