Congenital muscular dystrophy, brain and eye abnormalities: one or more clinical entities?

Laverda, A. M.; Battaglia, Mario Alberto; Drigo, Paola; Battistella, P. A.; Casara, Gianluca; Suppiej, Agnese; Casellato, R.

doi:10.1007/bf00305313

Cited by 8 publications

(2 citation statements)

References 23 publications

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“…Affected infants present with hypotonia, blindness, or with severely diminished vision, severe developmental delay, and death during infancy [Dobyns et al, 1989b]. They suffer from congenital muscular dystrophy and congenital ocular abnormalities, which can include microophthalmia, optic nerve hypoplasia, retinal dysplasia, and cataracts [Kuchelmeister et al, 1993;Laverda et al, 1993]. Diagnosis is confirmed by MRI analysis, which reveals severe hydrocephalus, complete loss of cerebral gyration (folding), and cerebellar and brainstem hypoplasia [Barkovich et al, 1991;Cormand et al, 2001].…”

Section: Introductionmentioning

confidence: 98%

Mutations inPOMT1 are found in a minority of patients with Walker-Warburg syndrome

et al. 2005

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Walker-Warburg syndrome (WWS) is an autosomal recessive disorder of infancy characterized by hydrocephalus, agyria, retinal dysplasia, congenital muscular dystrophy, and over migration of neurons through a disrupted pial surface resulting in leptomeningeal heterotopia. Although previous work identified mutations in the o-mannosyl transferase, POMT1, in 6 out of 30 WWS families [Beltran-Valero de Bernabe et al., 2002], the incidence of POMT1 mutations in WWS is not known. We sequenced the entire coding region of POMT1 in 30 consecutive, unselected patients with classic WWS. Two novel heterozygous mutations were found in two patients from non-consanguineous parents, whereas 28 other patients failed to show any POMT1 mutations. One patient was found to be heterozygous for a transition, g.1233T > A, which predicts p.Y352X. A second patient was found also to be heterozygous for a transition g.1790C > G, which predicts p.S537R. As an additional determination of the frequency of the POMT1 mutations in WWS, we tested for linkage of WWS to POMT1 in six consanguineous families. All six demonstrated heterozygosity and negative LOD scores at the POMT1 locus. From these data we show that POMT1 is an uncommon cause of WWS, the incidence of coding region mutations in this population of WWS being less than 7%. We conclude that while the incidence of POMT1 mutations in WWS can be as high as 20% as reported by Beltran-Valero de Bernabe et al. [2002] and it can be as low as approximately 7%, as reported here.

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Section: Introductionmentioning

confidence: 98%

Mutations inPOMT1 are found in a minority of patients with Walker-Warburg syndrome

et al. 2005

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“…As avaliações e genotipagem das ninhadas de cada cruzamento possibilitaram a comprovação de que este animal duplo-mutante é viável, pois o numero de animais afetados se manteve dentro da proporção mendeliana esperada de 25%. acometimento dos olhos e músculos da face são mais freqüentes em distrofias musculares congênitas com defeitos na via de glicosilação da proteína α-distroglicana (Leyten, Gabreels et al, 1992;Laverda, Battaglia et al, 1993). É possível, portanto, que a deficiência concomitante da distrofina e da α2laminina levem a um desequilíbrio do DGC, e à conseqüente falta da α-distroglicana, resultando no fenótipo ocular observado.…”

Section: Criação Do Camundongo Duplo-mutante Para Dmd E Cmd-1aunclassified

Avaliação do padrão de degeneração e regeneração muscular em diferentes modelos murinos para distrofias musculares progressivas

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Magnetic resonance imaging in classification of congenital muscular dystrophies with brain abnormalities

Knaap¹,

Smit²,

Barth³

et al. 1997

Annals of Neurology

129

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A survey was performed of magnetic resonance imaging (MRI) findings in 21 patients with congenital muscular dystrophy (CMD) with cerebral abnormalities to evaluate the contribution of MRI to the classification of CMD patients. In 5 patients with Walker-Warburg syndrome (WWS), MRI showed hydrocephalus due to aqueduct stenosis, generalized cerebral cortical agyric or pachygyric polymicrogyria, diffuse cerebral hemispheric white matter abnormalities, and malformations of posterior fossa structures. In 4 patients with muscle-eye-brain disease, MRI showed cortical dysplasia, but less severe than in WWS. The cerebral white matter either was normal or contained multiple focal abnormalities. Malformations of posterior fossa structures were present. Eight patients, classified as having classic merosin-deficient CMD (MD-CMD), had diffuse cerebral hemispheric white matter abnormalities, no other abnormalities. One patient with MD-CMD had only a few, focal white matter abnormalities. Three CMD patients had occipital agyria, otherwise normal gyration, multifocal or more diffuse cerebral white matter changes, and variable hypoplasia of pons and vermis. Two of the 3 patients had negative muscle merosin staining. The conclusion of the study is that MRI is an important adjunct in the classification of CMD patients. CMD with occipital agyria can be regarded as a newly recognized, separate CMD subtype.

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Congenital muscular dystrophy, brain and eye abnormalities: one or more clinical entities?

Cited by 8 publications

References 23 publications

Mutations inPOMT1 are found in a minority of patients with Walker-Warburg syndrome

Mutations inPOMT1 are found in a minority of patients with Walker-Warburg syndrome

Avaliação do padrão de degeneração e regeneração muscular em diferentes modelos murinos para distrofias musculares progressivas

Magnetic resonance imaging in classification of congenital muscular dystrophies with brain abnormalities

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