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Biomedical subjects

E Legius

Publications and source records attributed to E Legius.

At least 109 records · Page 6Linked to original sources
PubMed1994

Exclusion of linkage to 14q23-24 in a family with Holt-Oram syndrome.

Holt-Oram syndrome is an autosomal dominant disorder with congenital heart defects and skeletal malformations of the upper extremities. A patient with a deletion of 14q23-24 and Holt-Oram syndrome has been described. In this report, however, genetic linkage to the 14q23-24 region is excluded in a multigeneration family with five available individuals affected with Holt-Oram syndrome. Familial Holt-Oram syndrome might be different from the syndrome with the 14q23-24 deletion.

Abnormalities, Multiple↗
PubMed1994

Genetic heterogeneity in Rieger eye malformation.

A three generation family with Rieger eye malformation sequence is described. No other abnormalities were present apart from the eye malformation. Linkage to EGF and D4S193 localised in 4q25 was excluded and this indicates that Rieger eye malformation is genetically different from typical Rieger syndrome with teeth and umbilical anomalies.

Chromosomes, Human, Pair 4↗
PubMed1994

Limited expansion of the (CAG)n repeat of the Huntington gene: a premutation (?).

Huntington's disease (HD) is an autosomal dominant disorder with choreic movements, psychiatric manifestations and cognitive dysfunction. Recently the IT15 gene on chromosome 4p has been identified containing an unstable and expanded trinucleotide repeat in patients with HD. We report on the characteristics of this repeat in 248 individuals from 41 Belgian HD families. The length of the expanded repeat was defined precisely and reproducibly on an ALF sequencer and correlated well with the age of onset (r = -0.72). Paternal transmission of the expanded repeat resulted on average in a significantly longer repeat length (+2.79 repeats) than maternal transmission (-0.29 repeats). (CAG)n repeat of a premutation (?) size was observed in this population with subsequent expansion in the disease range. Presymptomatic or prenatal testing using only linked markers may be problematic in these cases.

Adult↗
PubMed1994

Neurofibromatosis type 1.

The authors review the present data on the clinical and molecular aspects of neurofibromatosis type 1 (NF1). In the clinical part attention is given to the frequent observation of learning disabilities in NF1 children. In these children visual-spatial integration deficits and an increased incidence of school performance problems are observed. The NF1 gene is located on chromosome 17 (17q11.2), and is highly conserved across species. Up to now only a limited number of mutations in this gene have been characterized, and this shows a general lack of genotype-phenotype correlation. Evidence is given that the NF1 gene acts as a true tumor suppressor gene and that oncogenesis in NF1 is a complex multistep phenomenon with the second hit in the NF1 gene as the initiating event. The importance of specialized multidisciplinary outpatient clinics for neurofibromatosis is emphasized because of the complexity of follow-up and treatment of these patients.

Child↗
PubMed1994

Catel-Manzke palatodigital syndrome in a second trimester female foetus with nuchal oedema, costovertebral anomalies and radial ray defect.

We present a female fetus with combination of Pierre Robin anomaly and nuchal oedema, bilateral radial defects, multiple hand malformations including bilateral hyperphalangy, brachymesophalangy, costovertebral abnormalities, and complex cardiac malformation. The present findings constitute a true MCA syndrome with uncertain pattern of inheritance.

Abortion, Eugenic↗
PubMed1994

Neurofibromatosis type 1 in childhood: a study of the neuropsychological profile in 45 children.

Developmental testing (7 children, aged between 17 months and 4 years) and intelligence profile analysis (38 children, aged between 4 and 16 years) were performed in a group of 45 children with NF1 followed at the Leuven NF clinic. Mental retardation (total IQ < 70) was noted in 2 of the 38 children between 4 and 16 years (5.2%). The mean total IQ of this group was 89.9 with a significantly higher verbal IQ than performed IQ. Factor analysis according to Kaufman showed a significantly weaker score on perceptual organization as compared with verbal comprehension. Concentration difficulty as measured by the Freedom from Distractibility Factor of Kaufman was not an important problem in the total group of children, but was more significant in the group of children with a total IQ above 85. Subtest analysis also showed significantly better scores on some verbal comprehensive tests as compared with some perceptual organization tests. Learning disabilities were frequent in the children analyzed in this report and non-verbal learning disabilities were the predominant type (40% of children). However other types and combinations of different types of learning disabilities were also found.

Adolescent↗
PubMed1993

Somatic deletion of the neurofibromatosis type 1 gene in a neurofibrosarcoma supports a tumour suppressor gene hypothesis.

Individuals with neurofibromatosis type 1 (NF1) have an increased risk of developing benign and malignant tumours. The NF1 gene is thought to be a tumour suppressor gene, yet no direct proof at the molecular level exists to support this hypothesis. Here we describe a neurofibrosarcoma from a patient with NF1 with loss of heterozygosity for all chromosome 17 polymorphisms tested. On the remaining chromosome 17 homologue, a 200 kilobase (kb) tumour specific deletion of NF1 was demonstrated. This is the first example of a homozygous inactivation of NF1 at the molecular level in a malignant tumour from an NF1 patient and the results strongly support the tumour suppressor gene hypothesis for this disease.

Adult↗
PubMed1993

Progressive pseudorheumatoid arthritis of childhood (PPAC) and normal adult height.

Two brothers and a sister presented with spondyloepiphyseal dysplasia and progressive arthropathy. Stiffness and restricted mobility of several large joints had been present since childhood. Their adult height was normal, and skeletal radiography showed mild platyspondyly, abnormal epiphyses and severe osteoarthrosis with extensive synovial osteochondromatosis. This autosomal recessive type of spondyloepiphyseal dysplasia tarda must be distinguished from other forms of spondyloepiphyseal dysplasia, rheumatoid arthritis in childhood and osteoarthrosis in adults.

Adult↗
PubMed1993

Oculo-auriculo-vertebral spectrum malformation and contralateral absence of internal carotid artery.

We report a 50 year old mildly retarded male with right sided hemifacial microsomia, vertebral defects and absence of the left internal carotid artery. It is very unlikely that the congenital vascular abnormality on the left side in this patient is responsible for the right sided congenital facial abnormalities. Therefore we discuss the possibility that abnormal migration of or interaction with cells of the cranial neural crest has resulted in absence of the internal carotid artery on the left side and oculo-auriculo-vertebral spectrum malformation on the right side.

Angiography, Digital Subtraction↗
PubMed1992

NF1-related locus on chromosome 15.

A neurofibromatosis type I (NF1)-related locus has been identified on chromosome 15. It contains a partial copy of the NF1 GAP-related domain, which is known to interact with the ras protooncogenes. However, the chromosome 15 sequence contains multiple deletions resulting in frameshift mutations and stop codons in several highly conserved sequence blocks. The locus on chromosome 15 therefore represents an NF1 pseudogene. This nonprocessed NF1 pseudogene may produce additional fragments in Southern blotting, pulsed-field gel, and PCR experiments with some NF1 cDNA probes or oligonucleotides. In addition, certain regions of the NF1 gene also cross-hybridize with a locus on chromosome 14. These loci must be considered in mutation analysis of patients with NF1 since aberrant findings may not always reflect changes in the NF1 gene.

Base Sequence↗
PubMed1992

A yeast artificial chromosome contig encompassing the type 1 neurofibromatosis gene.

The yeast artificial chromosome (YAC) system (Burke et al., 1987, Science 236: 806-812) allows the direct cloning of large regions of the genome. A YAC contig map of approximately 700 kb encompassing the region surrounding the type 1 neurofibromatosis (NF1) locus on 17q11.2 has been constructed. A single YAC containing the entire NF1 locus has been constructed by homologous recombination in yeast. In the process of contig construction a novel method of YAC end rescue has been developed by YAC circularization in yeast and plasmid rescue in bacteria. YACs containing homology to the NF1 region but mapping to another chromosome have also been discovered. Sequences of portions of the homologous locus indicate that this other locus is a nonprocessed pseudogene.

Base Sequence↗
PubMed1991

Molecular and cytogenetic analysis of tumors in von Recklinghausen neurofibromatosis.

Von Recklinghausen neurofibromatosis (NF1) is a common autosomal dominant disorder mapped to 17q11.2 and typically characterized by the occurrence of neural crest-derived tumors. The gene has recently been cloned using reverse genetics or "positional cloning" approaches. Its function, however, remains unknown. We have performed cytogenetic and molecular analyses on 9 malignant tumors from NF1 patients to look for loss of alleles or chromosome rearrangements involving chromosome 17 to test the hypothesis that the NF1 gene acts as a recessive "tumor suppressor" gene. Loss of alleles on this chromosome was detected for 3 of 9 malignant tumors. Two peripheral nerve sheath tumors showed allele loss at informative loci on both the long and short arms of chromosome 17. In contrast, a glioblastoma with focal gliosarcoma showed loss of heterozygosity on the short arm of chromosome 17 only, and not at loci on the long arm. One nerve sheath tumor was previously shown by direct sequence analysis to have a point mutation at the TP53 locus at 17p13. These data support a role for the TP53 gene or other genes on the short arm of chromosome 17 in at least some malignancies in NF1. Six other neurofibrosarcomas showed no allele loss at informative loci on chromosome 17. Cytogenetic analysis was performed on 7 tumors, including 2 with allele loss. The two tumors with allele loss showed abnormal karyotypes while all others were normal. Southern blot and pulsed-field gel analysis using probes within or closely linked to the NF1 locus detected no gross deletions or rearrangements in the tumors studied.(ABSTRACT TRUNCATED AT 250 WORDS)

Alleles↗
PubMed1990

Alagille syndrome (arteriohepatic dysplasia) and del(20)(p11.2)

We report on a boy with Alagille syndrome. Chromosome analysis on a peripheral blood lymphocyte culture showed a de novo deletion of the short arm of chromosome 20 with a 46,XY,del(20)(p11.2) chromosome constitution. This is the second report of a del(20p) in a patient with Alagille syndrome. The possible localisation of this autosomal dominant syndrome on 20p is discussed.

Abnormalities, Multiple↗
PubMed1990

Restrictive dermopathy with distinct morphological abnormalities.

A newborn child is described with the fetal hypokinesia sequence as a consequence of a restrictive dermopathy. Remarkable findings in this infant were neonatal teeth and survival till age 4 months. Ultrastructural examination of the skin showed thin epidermis and absence of elastic fibres.

Abnormalities, Multiple↗