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Biomedical subjects

P Beighton

Publications and source records attributed to P Beighton.

At least 109 records · Page 6Linked to original sources
PubMed1989

Evidence for genetic heterogeneity in tuberous sclerosis.

The question of genetic heterogeneity in tuberous sclerosis (TSC) was addressed by genetic linkage studies in eight affected families using nine polymorphic markers (EFD126.3, MCT136, ABO, ABL, AK1, and MCOA12 from distal 9q, and PBGD, MCT128.1, and 1CJ52.208M from distal 11q). The data as a whole supported a TSC locus on distal 9q, the peak lod score on multipoint analysis being 3.77 at 6 cM proximal to the Abelson oncogene locus (ABL). However, analysis of two point lod scores using the HOMOG programs showed significant evidence for genetic heterogeneity (p = 0.01), linkage to ABL being unlikely in one family. After exclusion of the unlinked family, multipoint analysis gave a peak lod score of 6.1 in the vicinity of ABL. The family unlinked to ABL showed no recombinants with two chromosome 11 probes, but was too small to provide significant evidence for linkage. Genetic heterogeneity in TSC will complicate efforts to clone the causative genes and severely limit the use of linked probes for carrier detection and prenatal diagnosis.

Chromosome Mapping↗
PubMed1988

Childhood deafness in Zimbabwe.

An investigation involving 885 children in five institutions for the deaf in Zimbabwe was conducted with a view to determining the cause of hearing loss. The cause of deafness in 40% of cases was an infectious or infective disorder, while in 43% the basic defect was unknown. There was a seemingly high prevalence of autosomal recessively inherited undifferentiated deafness among children from the Shona tribe. Conversely, an apparent underrepresentation of genetic syndromic disorders was evident in both major tribal groups. Possible explanations for these findings are discussed.

Adolescent↗
PubMed1988

Polyostotic fibrous dysplasia with cranial hyperostosis: new entity or most severe form of polyostotic fibrous dysplasia?

Polyostotic fibrous (McCune-Albright) dysplasia is an uncommon nonhereditable disorder characterized by localized or widespread cystic changes in the skeleton. The limb bones are predominantly affected; craniofacial involvement is rare. We have encountered a severely affected man, with the additional manifestation of massive craniofacial hyperostosis. It is questionable whether this condition is an autonomous entity or represents the end of the spectrum of severity of polyostotic fibrous dysplasia.

Adult↗
PubMed1988

X-linked mixed deafness with stapes fixation in a Mauritian kindred: linkage to Xq probe pDP34.

Molecular linkage analysis was undertaken on a large Mauritian kindred with X-linked mixed deafness, stapes fixation, and perilymphatic gusher (X-LDSF). DNA probe pDP34 (DXYS1) was tightly linked to the disorder, with a lod score of 6.32 at zero recombination. This observation indicates that the gene for this form of deafness maps to the Xq13-q21.1 region and has important implications for carrier screening and antenatal diagnosis.

Chromosome Mapping↗
PubMed1988

Sclerosteosis.

Explore the source record for details and available documents.

Bone Diseases, Developmental↗
PubMed1988

Total hip arthroplasty in Gaucher's disease. Long-term prognosis.

Avascular necrosis of the femoral head is a cause of morbidity in patients with Gaucher's disease. Total hip arthroplasty (THA) is recommended, but there is controversy about the long-term value of this procedure. In eight patients treated with 15 THAs, 11 (73%) have remained fully mobile and asymptomatic up to 14 years following surgery. These long-term follow-up observations are evidence in favor of THA for treatment of hip joint problems associated with Gaucher's disease.

Adult↗
PubMed1987

Duchenne muscular dystrophy in South Africa. Prevention by molecular techniques.

The availability of DNA markers closely linked to the Duchenne muscular dystrophy (DMD) gene locus has facilitated carrier detection and prenatal diagnosis of this condition. More than 50 affected South African kindreds are being studied using DNA probes within and flanking the DMD region of the X chromosome in order to ascertain the nature of the molecular defects in affected males and to investigate the feasibility of genetic management by means of these techniques. The results of this study and the implications of this new molecular technology for DMD patients in South Africa are reviewed and discussed.

Child↗
PubMed1987

Genetic disease in South Africa. A molecular approach.

The Department of Human Genetics, University of Cape Town, has accumulated data on more than 11,000 individuals with inherited disorders seen over the last 15 years. Clinical and radiographic data on these persons and their families have been documented and where appropriate they have been investigated in our genetic laboratories. In accordance with current trends, a molecular genetic laboratory has been developed. The approach to South African genetic disease using recombinant DNA techniques is described.

DNA↗
PubMed1987

Morquio's disease type B (beta-galactosidase deficiency) in three siblings.

The clinical and biochemical findings in 3 siblings with Morquio's disease type B (mucopolysaccharidosis (MPS) IV B) are presented. Their phenotype is characterised by short trunk dwarfism with kyphoscoliosis and thoracic deformity. Radiographic findings include general platyspondyly, dysplasia of the pelvis and epiphyseal abnormalities. The patients are of normal intelligence. In the urine of all 3 affected children abnormal oligosaccharide excretion was found by thin-layer chromatography and in 1 of them keratosulphaturia was detected. The clinical diagnosis was confirmed biochemically by demonstration of a profound deficiency of beta-galactosidase activity in cultured fibroblasts. The clinical picture is compared with that of other cases in the literature and the possible molecular basis of the different phenotypes of beta-galactosidase deficiency (variants of monosialo-ganglioside-1 (GM1)-gangliosidosis, Morquio's disease type B) is discussed.

Adolescent↗
PubMed1987

Lethal cardiac conduction defects in Emery-Dreifuss muscular dystrophy.

Significant cardiac conduction defects were a prominent feature of a kindred suffering from Emery-Dreifuss muscular dystrophy and 3 affected males were treated by insertion of permanent cardiac pacemakers. Because of the rarity of this disorder and for the sake of further phenotype delineation, results of clinical, genetic and biochemical investigations of the affected males and obligate carrier females are presented and discussed.

Adult↗
PubMed1987

Childhood deafness in the Indian population of Natal.

A study of 212 Indian children at the V.A. Naik School for Deaf was undertaken to determine the aetiology of their deafness. Undifferentiated autosomal recessive deafness was more frequent among Muslim patients--a population with a high incidence of consanguineous marriages--than among Tamils and Hindus. Although fewer than expected genetic syndromes were identified, Waardenburg's syndrome was present in 2% of the pupils. A firm diagnosis of acquired deafness was obtained in 32 children (15%).

Adolescent↗
PubMed1987

Molecular genetics and Huntington's disease. The South African situation.

The finding of a polymorphic DNA marker for Huntington's disease offers the potential for preclinical and prenatal screening for this condition. However, before implementation of a programme of this nature in South Africa, certain technical, medical psychosocial and ethical considerations require careful appraisal. The current situation with regard to the importance and implications of this new technology to affected kindreds is reviewed and discussed.

DNA↗
PubMed1987

Familial rhizomelic dysplasia: phenotypic variation or heterogeneity?

In a consanguineous kindred of mixed ancestry in Cape Town we observed a boy with severe shortness of stature and an unusual skeletal dysplasia with marked shortness of the humeri. A male one-half second cousin had gross abnormalities of the lower limbs, which were worst in the femora, but his skeleton was otherwise virtually normal. A brother and sister of this latter individual had been similarly affected and their parents were consanguineous. The question arises as to whether two similar but separate disorders are present in this family or whether the condition in these two persons represents extreme phenotypic variability of the same autosomal recessive entity.

Bone Diseases, Developmental↗
PubMed1987

Proteus syndrome in southern Africa: natural history and clinical manifestations in six individuals.

Six individuals with Proteus syndrome have been investigated; 2 were adults and the others ranged in age from 2 to 11 years. They had a wide spectrum of manifestations and severity together with the hitherto unreported anomalies of penile hypertrophy, macro-orchidism, goiter, and failure of breast development. These findings were associated with normal endocrine function. Bizarre digital overgrowth, hemihypertrophy, thickened palms and soles, exostoses of the skull, and multiple hamartomata were common anomalies. Early overgrowth of limbs and digits occurred in several instances but the ultimate stature of 2 adults was normal. Surgical intervention offers cosmetic and orthopedic benefits, but these must be assessed in the light of potential post-operative complications.

Adult↗