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  • 1
    Electronic Resource
    Electronic Resource
    Evidence of genetic heterogeneity of Leber’s congenital amaurosis (LCA) and mapping of LCA1 to chromosome 17p13 (1996)
    Springer
    Human genetics 〈Berlin〉 97 (1996), S. 798-801 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Leber’s congenital amaurosis (LCA) is an autosomal recessive disease responsible for congenital blindness. It is the earliest and most severe inherited retinal dystrophy in human and its genetic heterogeneity has long been recognised. We have recently reported on the first localisation of a disease gene (LCA1) to the short arm of chromosome 17 by homozygosity mapping in five families of North African origin. Here, we refine the genetic mapping of LCA1 to chromosome 17p13 between loci D17S938 and D17S1353 and provide strong support for the genetic heterogeneity of this condition (maximum likelihood for heterogeneity, 17.20 in lnL; heterogeneity versus homogeneity, P = 0.0002, heterogeneity versus no linkage, P 〈 0.0001)
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004390050139
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  • 2
    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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  • 3
    Electronic Resource
    Electronic Resource
    Evidence of genetic heterogeneity of Leber's congenital amaurosis (LCA) and mapping of LCA1 to chromosome 17p13 (1996)
    Springer
    Human genetics 〈Berlin〉 97 (1996), S. 798-801 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Leber's congenital amaurosis (LCA) is an autosomal recessive disease responsible for congenital blindness. It is the earliest and most severe inherited retinal dystrophy in human and its genetic heterogeneity has long been recognised. We have recently reported on the first localisation of a disease gene (LCAI) to the short arm of chromosome 17 by homozygosity mapping in five families of North African origin. Here, we refine the genetic mapping of LCAI to chromosome 17p13 between loci D17S938 and D17S1353 and provide strong support for the genetic heterogeneity of this condition (maximum likelihood for heterogeneity, 17.20 in 1nL; heterogeneity versus homogeneity,P = 0.0002, heterogeneity versus no linkage,P 〈 0.0001)
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02346192
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    Paper (German National Licenses)
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  • 4
    Electronic Resource
    Electronic Resource
    Abnormal cholesterol biosynthesis in the Smith-Lemli-Opitz and the lethal acrodysgenital syndromes (1996)
    Springer
    European journal of pediatrics 155 (1996), S. 656-659 
    Details
    ISSN: 1432-1076
    Keywords: Smith-Lemli-Opitz ; Lethal acrodysgenital syndrome ; Cholesterol metabolism ; 7-Dehydrocholesterol
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The Smith-Lemli-Opitz syndrome (SLO) is an autosomal recessive disorder characterized by dysmorphic facial features with abnormal limbs and genitalia. Two forms have been recognized based on clinical course and severity: the classical SLO (type I) and the lethal acrodysgenital syndrome (type II). Type I SLO has been recently ascribed to a defect in cholesterol synthesis. Taking advantage of a series of seven patients including five type I and two type II SLO, we describe micrognathia, severe microcephaly, major ante and post natal growth retardation and feeding difficulties as consistent features in the disease. In addition, we give support to the presence of abnormal cholesterol levels in the lethal acrodysgenital syndrome but find no correlation between plasma sterol levels and the clinical severity of the disease.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01957147
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  • 5
    Electronic Resource
    Electronic Resource
    Familial hyperproinsulinaemia due to a mutation substituting histidine for arginine at position 65 in proinsulin: identification of the mutation by restriction enzyme mapping (1998)
    Springer
    European journal of pediatrics 157 (1998), S. 456-460 
    Details
    ISSN: 1432-1076
    Keywords: Key words Insulin ; Proinsulin ; Point mutations ; DNA restriction enzymes
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Familial hyperproinsulinaemia is a rare genetic disorder characterized by point mutations in the insulin gene which impair the conversion of proinsulin to insulin. We report here three members of a two-generation Caucasian family in whom this syndrome was identified by unexplained hyperinsulinism associated with normal glucose tolerance and normal insulin sensitivity. Plasma insulin immunoreactivity showed a reduced affinity for the insulin receptor and eluted mainly, on Biogel chromatography, at the position of proinsulin. Analysis of the PCR-amplified insulin gene by restriction enzyme mapping revealed a new recognition site for the enzyme Nla III, indicating a Arg65 to His mutation. Sequence analysis of exon 3 confirmed this mutation in one allele of the gene. Conclusion This study reports a two-generation European-Caucasian family with hyperproinsulinaemia due to a substitution of His for Arg at position 65 in proinsulin, the seventh now identified worldwide and the second from Europe. The mutation generated a new restriction site on the insulin gene suggesting the usefulness of restriction enzyme mapping as a screening procedure.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004310050852
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  • 6
    Electronic Resource
    Electronic Resource
    The neurogenic weakness, ataxia and retinitis pigmentosa (NARP) syndrome mtDNA mutation (T8993G) triggers muscle ATPase deficiency and hypocitrullinaemia (1999)
    Springer
    European journal of pediatrics 158 (1999), S. 55-58 
    Details
    ISSN: 1432-1076
    Keywords: Keywords T8993G mtDNA mutation ; Hypocitrullinaemia ; ATPase deficiency
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Based on the study of three unrelated families, we report what we believe to be the first in vivo evidence of muscle ATPase deficiency in individuals carrying the neurogenic weakness, ataxia and retinitis pigmentosa (NARP) syndrome mtDNA mutation (T8993G). Since plasma citrulline was consistently low in 4/5 patients, we suggest that the NARP mutation caused complex V deficiency in the small intestine as well, thus reducing the availability of mitochondrial ATP required for citrulline synthesis. Conclusion We suggest giving consideration to hypocitrullinaemia as a hallmark of the neurogenic weakness, ataxia and retinitis pigmentosa syndrome mutation and more generally of impaired oxidative phosphorylation in the small intestine in vivo.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004310051009
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  • 7
    Electronic Resource
    Electronic Resource
    Clinical presentations and laboratory investigations in respiratory chain deficiency (1996)
    Springer
    European journal of pediatrics 155 (1996), S. 262-274 
    Details
    ISSN: 1432-1076
    Keywords: Key words Oxidative ; phosphorylation ; Respiratory chain deficiency ; Mitochondrial disorders ; Metabolic diseases
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Respiratory chain deficiencies have long been regarded as neuromuscular diseases. In fact, oxidative phosphorylation, i.e., ATP synthesis by the respiratory chain not only occurs in the neuromuscular system, indeed, a number of non-neuromuscular organs and tissues are dependent upon mitochondrial energy supply. For this reason, a respiratory chain deficiency can theoretically give rise to any symptom, in any organ or tissue, at any age with any mode of inheritance, due to the twofold genetic origin of respiratory enzymes (nuclear DNA and mitochondrial DNA).
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004310050399
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    Paper (German National Licenses)
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  • 8
    Electronic Resource
    Electronic Resource
    Abnormal cholesterol biosynthesis in the Smith-Lemli-Opitz and the lethal acrodysgenital syndromes (1996)
    Springer
    European journal of pediatrics 155 (1996), S. 656-659 
    Details
    ISSN: 1432-1076
    Keywords: Key words Smith-Lemli-Opitz ; Lethal acrodysgenital syndrome ; Cholesterol metabolism ; 7-Dehydrocholesterol
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The Smith-Lemli-Opitz syndrome (SLO) is an autosomal recessive disorder characterized by dysmorphic facial features with abnormal limbs and genitalia. Two forms have been recognized based on clinical course and severity: the classical SLO (type I) and the lethal acrodysgenital syndrome (type II). Type I SLO has been recently ascribed to a defect in cholesterol synthesis. Taking advantage of a series of seven patients including five type I and two type II SLO, we describe micrognathia, severe microcephaly, major ante and post natal growth retardation and feeding difficulties as consistent features in the disease. In addition, we give support to the presence of abnormal cholesterol levels in the lethal acrodysgenital syndrome but find no correlation between plasma sterol levels and the clinical severity of the disease. Conclusion. The identification of the same biochemical defect in both types of Smith-Lemli-Opitz Syndrome suggests that despite major discrepancies in clinical course and severity, type I and type II SLO are probably allelic disorders.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01957147
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    Paper (German National Licenses)
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  • 9
    Electronic Resource
    Electronic Resource
    Prevalence of the microdeletion 22q11 in newborn infants with congenital conotruncal cardiac anomalies (1998)
    Springer
    European journal of pediatrics 157 (1998), S. 881-884 
    Details
    ISSN: 1432-1076
    Keywords: Key words Chromosome 22q11.2 microdeletions ; Congenital heart disease ; Conotruncal heart defect ; DiGeorge anomaly
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Conotruncal malformations account for about 50% of congenital heart defects diagnosed in newborns. We studied prospectively 104 patients admitted in our neonatal intensive care unit for conotruncal defects by fluorescence in situ hybridization to estimate the prevalence of the interstitial deletion in this category of congenital heart disease. Cardiac phenotypes were: truncus arteriosus (17), interrupted aortic arch (18), tetralogy of Fallot with or without pulmonary valve atresia (55), tetralogy of Fallot with absent pulmonary valves (5), ventricular septal defect with malalignment of the conal septum (9). We discovered a microdeletion 22q11 at loci D22S39 or D22S398 in 50 newborns (48%). The prevalence of this microdeletion in different groups of conotruncal defects was: truncus arteriosus 7/17, interrupted aortic arch 16/18, tetralogy of Fallot 19/55, absent pulmonary valves 2/5, and ventricular septal defect 6/9 respectively. Only two patients without any clinical or biological feature of the so called CATCH22 syndrome exhibited the deletion. Parental studies confirmed that the deletion occurred de novo in 47/50 cases (three parental microdeletions). On the other hand, recurrence of conotruncal heart defects in families of “undeleted probands” was higher than expected (13%). Conclusion In 50/104 newborns with conotruncal defects, an interstitial deletion 22q11 was found. Fluorescence in Situ Hybridization should be performed in newborn infants with conotruncal defect and at least one additional manifestation of the CATCH22 phenotype.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004310050959
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  • 10
    Electronic Resource
    Electronic Resource
    Presentation of six cases of Stüve-Wiedemann syndrome (1998)
    Springer
    Pediatric radiology 28 (1998), S. 776-780 
    Details
    ISSN: 1432-1998
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Stüve-Wiedemann syndrome (SWS) is a rare disorder characterized by bowing of the long bones, camptodactyly, respiratory distress, hyperthermic episodes and early lethality. We report six additional cases of SWS, suggesting that this syndrome is homogeneous. All patients had feeding and swallowing difficulties, respiratory insufficiency, dysmorphic features and radiolucent metaphyses with abnormal trabecular pattern. Recurrent episodes of unexplained fever was the cause of death in almost all cases. Parental consanguinity and recurrence in sibs is highly suggestive of autosomal recessive inheritance.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s002470050464
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