Prenatal diagnosis of mucolipidosis IV by electron microscopy

Kohn, Gertrude; Livni, Nelly; Ornoy, Asher; Sekeles, E.; Beyth, Yoram; Legum, Cyril; Bach, Gideon; Cohen, Maimon M.

doi:10.1016/s0022-3476(77)80765-8

Cited by 42 publications

(22 citation statements)

References 8 publications

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“…Recently, typical inclusions were found in the cultured amniotic fluid cells of a sibling of one of our patients and a selective abortion was performed [15,18]. This suggests that type IV mucolipidosis is an inborn error of metabolism which is inherited in an autosomal recessive matter and which is amenable to intrauterine diagnosis.…”

Section: Discussionmentioning

confidence: 67%

“…The most typical finding is the ultrastructural appearance of biopsies from conjunctiva, liver, cul tured fibroblasts and amniotic fluid cells. The electron microscopic find ings in amniotic fluid cells were considered to be sufficiently diagnostic in one fetus to recommend termination of the pregnancy [15,18]. The cells cultured from the aborted fetus showed dense accumulation of the same inclusions.…”

mentioning

confidence: 99%

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Ultrastructure of Cultured Fibroblasts in Mucolipidosis Type IV

Livni¹,

Legum²

1976

Pathobiology

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Five patients have been classified as suffering from mucolipidosis type IV on the basis of the findings in various tissues and in cultured fibroblasts. The light and electron microscopic features of cultured fibroblasts in this disease are described in detail. The differentiation of this condition from other lysosomal storage diseases and other types of mucolipidoses is discussed. The importance of identifying this disease for purposes of intrauterine diagnosis and eventual understanding of the underlying enzyme defect is stressed.

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Section: Discussionmentioning

confidence: 67%

mentioning

confidence: 99%

Ultrastructure of Cultured Fibroblasts in Mucolipidosis Type IV

Livni¹,

Legum²

1976

Pathobiology

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“…Although most of the patients are of Ashkenazi Jewish origin, MLIV has been described in other ethnic groups (3). Diagnosis of MLIV has been based on clinical and ultramicroscopic parameters (4,5). Numerous storage bodies of varying size and shape are found throughout many of the tissues by using electron microscopy (6).…”

mentioning

confidence: 99%

Mucolipidosis IV consists of one complementation group

Goldin

Cooney²,

Kaneski³

et al. 1999

Proc. Natl. Acad. Sci. U.S.A.

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Mucolipidosis IV (MLIV) is an autosomal recessive disorder of unknown etiology characterized by severe visual impairment and psychomotor retardation. Recently, there has been considerable interest in positional cloning of the MLIV gene. It is unknown whether MLIV is a genetically homogenous disorder. In this paper, we present experiments that determined whether the MLIV phenotype in fibroblasts could be corrected by fusing normal cells to MLIV cells and fusing fibroblasts from pairs of patients. All of our MLIV patients fulfilled several diagnostic criteria that we developed. In addition, we found high sensitivity to chloroquine in cultured fibroblasts from MLIV patients. We found that normal cells corrected the MLIV phenotype. Fusion products of normal and MLIV fibroblasts, but not MLIV fibroblasts themselves, were relatively protected against chloroquine selection. In addition, 74% of the normal-to-patient fusion products had reduced levels or total loss of MLIV characteristic autof luorescence. However, there was no complementation of the phenotype in fibroblast cultures from any of our MLIV patients, including those of non-Jewish ancestry. In fusion products of MLIV cultures from 24 patients, 90-100% of the cells remained autof luorescent. These results indicate that all of our known MLIV patients, regardless of ancestry or severity of the developmental defect, have a single mutated gene.

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“…In addition, various types of abnormalities have been reported in cultured fibroblasts in cases of Niemann-Pick disease [19], chondroitin-4-sulfate mu copolysaccharidosis [19], Sanfillippo's disease [19], /?-methylcrotonylglycinuria [27], Hurler's disease [16], Hunter's disease [39], mucolipidosis III [38], mucolipidosis IV [20], Batten's disease [24], cystic fibrosis [2], and Wolman's disease [24]. The presence of these abnormalities in cultured skin fibroblasts would indicate that potential exists for the prenatal diagnosis of disease by ultrastructural examination of cultured amniotic fluid fibroblasts in these disease states.…”

Section: Discussionmentioning

confidence: 99%

Utilization of Electron Microscopy in the Prenatal Diagnosis of Genetic Disease

Wyatt

Cox

1977

Hum Hered

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The use of electron microscopy as a further method of diagnosis of disease in cultured skin fibroblasts and cultured amniotic fluid fibroblasts is presented. It was demonstrated that Tay-Sachs disease, Fabry’s disease, and metachromatic leukodystrophy had distinctive abnormalities in both cultured skin fibroblasts and cultured amniotic fluid fibroblasts. It was shown that control of culturing conditions made it possible to distinguish normal cell lines from certain cell lines carrying known genetic diseases.

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Prenatal diagnosis of mucolipidosis IV by electron microscopy

Cited by 42 publications

References 8 publications

Ultrastructure of Cultured Fibroblasts in Mucolipidosis Type IV

Ultrastructure of Cultured Fibroblasts in Mucolipidosis Type IV

Mucolipidosis IV consists of one complementation group

Utilization of Electron Microscopy in the Prenatal Diagnosis of Genetic Disease

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