Gènes impliqués dans les alpha-dystroglycanopathies

Bouchet-Seraphin, C.; Chelbi-Viallon, Malika; Vuillaumier‐Barrot, Sandrine; Seta, Nathalie

doi:10.1051/medsci/201632s210

Cited by 2 publications

(2 citation statements)

References 59 publications

(51 reference statements)

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“…La sous-unité -DG est très fortement glycosylée et pas moins de 18 gènes sont impliqués dans les -DGpathies dont le point commun est un défaut de la glycosylation de cette sous-unité [2].…”

Section: Commentaireunclassified

Génétique : Intérêt du NGS dans un cas atypique de LGMD liée à l’alphadystroglycane

Allamand

2017

Med Sci (Paris)

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Section: Commentaireunclassified

Génétique : Intérêt du NGS dans un cas atypique de LGMD liée à l’alphadystroglycane

Allamand

2017

Med Sci (Paris)

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“…3,4 Mutations in more than 15 genes involved in α-DG glycosylation have been identified in association with dystroglycanopathies with variable clinical and radiological phenotypes. 5,6 B3GALNT2 (β-1,3-N-acetylgalactosaminyltransferase) was found to be involved in α-DG glycosylation. 7 Mutations in B3GALNT2 result in defective enzyme leading to improper α-DG glycosylation causing dystroglycanopathy.…”

Section: Introductionmentioning

confidence: 99%

B3GALNT2-Related Dystroglycanopathy: Expansion of the Phenotype with Novel Mutation Associated with Muscle-Eye-Brain Disease, Walker–Warburg Syndrome, Epileptic Encephalopathy-West Syndrome, and Sensorineural Hearing Loss

et al. 2018

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Mutations in , encoding a glycosyltransferase enzyme involved in α-dystroglycan glycosylation, have been recently associated with dystroglycanopathy, a well-recognized subtype of congenital muscular dystrophy (CMD). Only a few cases have been reported with-related dystroglycanopathy with variable severity ranging from mild CMD to severe muscle-eye-brain disease. Here, we describe a child with a novel homozygous nonsense mutation in . The affected child has severe neurological disease since birth, including muscle disease manifested as hypotonia, muscle weakness, and wasting with elevated creatine kinase, eye disease including microphthalmia and blindness, brain disease with extensive brain malformations including massive hydrocephalus, diffuse cobblestone-lissencephaly, deformed craniocervical junction, and pontocerebellar hypoplasia. The clinical and radiologic findings are compatible with a diagnosis of severe muscle-eye-brain disease and more specifically Walker-Warburg syndrome. A more distinct aspect of the clinical phenotype in this child is the presence of refractory epilepsy in the form of epileptic spasms, epileptic encephalopathy, and West syndrome, as well as sensorineural hearing loss. These findings could expand the phenotype of-related dystroglycanopathy. In this report, we also provide a detailed review of previously reported cases with -related dystroglycanopathy and compare them to our reported child. In addition, we study the genotype-phenotype correlation in these cases.

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Gènes impliqués dans les alpha-dystroglycanopathies

Cited by 2 publications

References 59 publications

Génétique : Intérêt du NGS dans un cas atypique de LGMD liée à l’alphadystroglycane

Génétique : Intérêt du NGS dans un cas atypique de LGMD liée à l’alphadystroglycane

B3GALNT2-Related Dystroglycanopathy: Expansion of the Phenotype with Novel Mutation Associated with Muscle-Eye-Brain Disease, Walker–Warburg Syndrome, Epileptic Encephalopathy-West Syndrome, and Sensorineural Hearing Loss

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