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  • 11
    Electronic Resource
    Electronic Resource
    An interstitial deletion in Xp22.3 in a family with X-linked recessive chondrodysplasia punctata and short stature (1990)
    Springer
    Human genetics 〈Berlin〉 85 (1990), S. 247-250 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary In a four-generation family, chondrodysplasia punctata was found in a boy and one of his maternal uncles. These two patients also have short stature, as do all female members of the family. DNA molecular analysis of the pseudoautosomal and Xp22.3-specific loci revealed the presence of an interstitial deletion that cosegregates with the phenotypic abnormalities. The proximal breakpoint of this deletion was located distal to the DXS31 locus and the distal breakpoint in the pseudoautosomal region between DXYS59 and DXYS17. This maps the recessive X-linked form of chondrodysplasia punctata between the proximal boundary of the pseudoautosomal region and DXS31, and an Xp gene controlling growth between DXYS59 and DXS31.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00193206
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  • 12
    Electronic Resource
    Electronic Resource
    An extension of the admixture test for the study of genetic heterogeneity in hereditary multiple exostoses (1997)
    Springer
    Human genetics 〈Berlin〉 99 (1997), S. 298-302 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Hereditary multiple exostoses (EXT) is an autosomal dominant disorder characterized by the presence of multiple cartilage-capped exostoses in the juxta-epiphyseal regions of the long bones. EXT is heterogeneous with at least three different locations currently having been identified on chromosomes 8, 11 and 19. We have tested a series of 29 EXT families for possible linkage to the three disease loci and estimated the probability of linkage of the disease to each locus in our series, by using an extension of the admixture test, which makes modelling of heterogeneous monogenic disease feasible. The maximum likelihood was obtained for proportions of 44%, 28% and 28% of families being linked to chromosome 8, 11 and 19, respectively. The a posteriori probability of linkage of the disease to EXT1, EXT2 and EXT3 was greater than 80% for 8/29, 5/29 and 3/29 families, respectively, and did not give evidence of a fourth locus for the disease. The present approach can be generalized to the investigation of genetic heterogeneity in other monogenic diseases, as it simultaneously estimates the location of each disease gene and the proportion of families linked to each locus.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004390050361
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  • 13
    Electronic Resource
    Electronic Resource
    A dominant mutation in the COL1A1 gene that substitutes glycine for valine causes recurrent lethal osteogenesis imperfecta (1992)
    Springer
    Human genetics 〈Berlin〉 89 (1992), S. 640-646 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Type I collagen chains of a proband from a family with recurrent lethal osteogenesis imperfecta (OI) migrated as a doublet when submitted to gel electrophoresis. Cyanogen bromide (CNBr) peptide mapping demonstrated that the post-translational over-modifications were initiated in α1ICB7. Chemical cleavage of cDNA-RNA heteroduplexes identified a mismatch in the α1I cDNA; this mismatch was subsequently confirmed by sequencing a 249-bp fragment amplified by the polymerase chain reaction. A G to T transition in the second base of the first codon of exon 41 resulted in the substitution of glycine 802 by valine. This mutation impaired collagen secretion by dermal fibroblasts. The over-modified chains were retained intracellularly and melted at a lower temperature than normal chains. Collagen molecules synthesized by parental fibroblasts had a normal electrophoretic mobility, but hybridization of genomic DNA with allele-specific oligonucleotides revealed the presence of the mutant allele in the mother's leukocytes. The mutation was not detected in her fibroblasts consistent with the protein data. These results support the hypothesis that somatic and germ-line mosaicism in the phenotypically normal mother explain the recurrence of OI.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00221955
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  • 14
    Electronic Resource
    Electronic Resource
    Normal lipid composition of fibroblasts from a case of type II achondrogenesis (1980)
    Springer
    European journal of pediatrics 134 (1980), S. 159-160 
    Details
    ISSN: 1432-1076
    Keywords: Lipids ; Fibroblasts in vitro ; Type II achondrogenesis
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Fibroblasts from a case of achondrogenesis type II and fibroblasts from a normal control donor were subcultivated in vitro in parallel. The lipid study on these cells showed similar total lipid content, free cholesterol level, phospholipid distribution and fatty acid patterns, while neutral glycerides were slightly more elevated in the control fibroblasts. The histological finding of Laxova et al. (1973) could not be confirmed.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01846038
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  • 15
    Electronic Resource
    Electronic Resource
    La metachondromatose (1971)
    Springer
    European journal of pediatrics 109 (1971), S. 246-261 
    Details
    ISSN: 1432-1076
    Keywords: Chondroma ; Chondromatosis ; Exostosis
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Résumé La métachondromatose se traduit par la présence de tumeurs cartilagineuses qui atteignent, avec électivité, les extrémités. Les chondromes peuvent se développer à l'extérieur ou l'intérieur de l'os. Certaines images, très signulières, semblent entourées d'une coque calcifiée. L'évolution est sourvent capricieuse: certaines tumeurs disparaissent alors que d'autres se développent rapidement. La maladie obéit à une transmission irrégulièrement dominante. Son pronostic est favorable, mais les déformations des extrémités justifient assez souvent une correction chirurgicale.
    Notes: Abstract Metachondromatosis is characterized by the presence of cartilaginous tumors which preferentially affect hands and feet. Chondromas may develop inside the bone or on its outside. Certain very stricking X-ray lesions seem to be surrounded by a calcified seam. The evolution of the disease is often capricious: some tumors disappear while others grow rapidly. The disease is transmitted as an irregular dominant. The prognosis is good, although the limb deformities often have to be corrected by surgery.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00442274
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  • 16
    Electronic Resource
    Electronic Resource
    Dominant mutations in familial lethal and severe osteogenesis imperfecta (1991)
    Springer
    Human genetics 〈Berlin〉 87 (1991), S. 297-301 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Four families presenting with familial osteogenesis imperfecta (OI) have been studied: 2 with the lethal type II and 2 with the severe type III form. Fibroblasts of the patients, all issue from non-consanguineous parents, produced normal and abnormal α(I) chains. These heterozygous mutations differentiate the recurrent forms from homozygous mutations characteristic of autosomal recessive forms. Although the identity of the mutations could not be determined, such recurrence of autosomal dominant OI is probably the result of germinal mosaicism in one of the parents. Biochemical results were consistent with a somatic mosaicism in the father's fibroblasts in one family. Moreover, our studies show that not only OI type II but also severe OI type III can arise from gonadal mosaicism. We discuss the importance of such a phenomenon for genetic counseling.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00200907
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