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PubMedDate not supplied

[Hypermethioninemia. Apropos of a case in a consanguineous couple].

We describe a female child from a consanguineous marriage (uncle-niece) with hypermethioninemia and hypermethioninuria without homocystinuria. She had several signs and symptoms previously undescribed in this pathology as growth retardation, generalized hypotonia, digestive disturbances, white skin, hypochromia of iris, thin, sparse and blond scalp hair. The pedigree suggests an autosomal recessive inheritance pattern.

Consanguinity↗
PubMed1994

Ionizing radiation and genetic risks. V. Multifactorial diseases: a review of epidemiological and genetic aspects of congenital abnormalities in man and of models on maintenance of quantitative traits in populations.

This paper discusses (a) data on the epidemiological and etiological aspects of human congenital abnormalities, (b) the multifactorial threshold model and other models which have been proposed to explain their inheritance patterns and recurrence risks in families and (c) current concepts on mechanisms on the prevalence of heritable variation for quantitative traits in populations. Congenital abnormalities, which afflict an estimated 6% of all live births, are etiologically heterogeneous. The majority of these do not follow Mendelian transmission patterns, but do 'run' in families. The multifactorial threshold model is an extension of genetic principles developed for quantitative traits to all-or-none traits; in its simplest formulation, it assumes the existence in the population of an underlying normally distributed 'liability' (which is due to numerous genetic and environmental factors acting additively, each contributing a small amount of liability) and of a 'threshold' beyond which the individual is affected. For most congenital abnormalities, the nature of these factors remains unknown. Other models assume fewer causal factors although, again, these remain to be identified. The question of how considerable heritable variation for most quantitative/polygenic traits has come to exist is a long-standing one in evolutionary population genetics. Models postulating that its existence is consistent with a balance between recurrent mutation and stabilizing selection or suggesting the possible operation of other mechanisms have been published in the literature. In the absence of knowledge on mechanisms responsible for the stable prevalences of congenital abnormalities or other multifactorial conditions in the population (but which is required to predict the consequences of an increase in mutation rate on their prevalences) it is necessary (a) to adapt and use concepts derived from quantitative and evolutionary population genetics and (b) to examine how sensitive the predictions are to the assumptions used, and how consistent they are with biological realities.

Abnormalities, Radiation-Induced↗
PubMed1995

Hereditary aspects of prostate cancer.

OBJECTIVE: To review current literature on the hereditary aspects of prostate cancer and to evaluate the importance of family history in history taking and screening for prostate cancer. DATA SOURCES: MEDLINE was searched for articles in English or French published between Jan. 1, 1956, and Oct. 31, 1994, with the use of MeSH headings "prostatic neoplasms," "genetics" and "chromosomes." Additional references were selected from the bibliographies of articles found during the search. STUDY SELECTION: Case-control studies involving the incidence of prostate cancer and relative risk (RR) of such cancer in the families of men with this disease, compared with a control group, were included. Only studies in which prostate cancer was diagnosed on the basis of histologic tests were included. Animal investigations were excluded. DATA EXTRACTION: Ten case-control studies were evaluated critically in terms of design, case and control groups, the size of the samples and statistical results. The incidence of prostate cancer in the families of cases, compared with that in the families of controls, and differences in RR were reviewed. DATA SYNTHESIS: The lifetime risk of prostate cancer is 9.5% and of death from prostate cancer is 2.9% for a man 50 years of age. For first-degree male relatives of men with prostate cancer, the calculated RR ranges from 1.7 to 8.73. "Hereditary" prostate cancer is a term applied to a specific subset of patients with prostate cancer. This form of prostate cancer is transmitted by a rare, autosomal, dominant allele with high penetrance; it accounts for an estimated 43% of early-onset disease (affecting men less than 55 years of age) but only 9% of all prostate cancer in men up to 85 years of age. A greater number of affected family members and early onset among family members are the most significant predictors of risk. CONCLUSIONS: Recent confirmation of the familial clustering and Mendelian inheritance patterns of some prostate cancer has important implications. It increases the potential for directed research into the causes of prostate cancer and for refinements in the current screening practices to detect this common disease. Manoeuvres to detect prostate cancer should be started earlier among men with one or more first-degree relatives with the disease than among other men.

Age Factors↗
PubMed1995

[Familial hyperinsulinism].

The authors present the case history of a 2 year old child suffering from nesidioblastosis. Severe non-ketotic symptomatic hypoglycaemia developed within the first hour of birth. Diagnosis of nesidioblastosis was confirmed by high insulin concentration accompanying hypoglycaemia, the increase in blood glucose level after glucagon administration and the stabilization of blood glucose level by continuous high rate glucose infusion. Normal blood glucose concentration was achieved by combined medical treatment (diazoxide, chlorothiazide and prednisolone) and the administration of starch. The authors present by familial form of the disease with autosomal recessive inheritance pattern and stress the significance of the intrauterine diagnosis. They summarize the main diagnostic and therapeutical management of the disease with special emphasize of the early intervention in order to prevent severe brain damage.

Adult↗
PubMed1994

Hereditary pancreatitis.

Hereditary pancreatitis is a clinical condition in which typical pancreatitis is associated with an inheritance pattern strongly suggestive of an autosomal dominant trait. Different variants have been described, some with aminoaciduria and some with ductal anomalies. Recurrent attacks are typical and lead to complications more often than in the idiopathic variety. Pancreatic enzyme supplements or antioxidants may help reduce the frequency and/or severity of attacks.

Child↗
PubMed1995

Acantholytic epidermolysis bullosa.

BACKGROUND: We describe a new variant of inherited epidermolysis bullosa and elucidate the clinical, histologic, and ultrastructural features of this condition. OBSERVATIONS: This form of epidermolysis bullosa displays an autosomal dominant inheritance pattern, is characterized by acral bullae, and histologically demonstrates suprabasal clefting with acantholysis. Ultrastructural findings are nonspecific but reminiscent of those observed in benign familial pemphigus. CONCLUSION: Acantholytic epidermolysis bullosa is a rare but distinct clinicopathologic entity that warrants inclusion in the nosologic classification of epidermolysis bullosa.

Acantholysis↗
PubMed1995

Angiokeratoma corporis diffusum and arteriovenous fistulas with dominant transmission in the absence of metabolic disorders.

BACKGROUND: A three-generation family with members affected by angiokeratoma corporis diffusum (ACD) and arteriovenous fistulas of the legs is described. Our purpose was to investigate possible lysosomal storage defects previously described in association with ACD. OBJECTIVE: Results of physical examination of both affected and unaffected family members were otherwise normal as was the life span. The inheritance pattern of both ACD and arteriovenous fistula traits was autosomal dominant, with variable expressivity and incomplete penetrance. Microscopic examination of ACD lesions showed dilated capillaries without vacuolation of cells. Ultrastructural studies failed to reveal lysosomal abnormalities. Normal levels of alpha-galactosidase, beta-galactosidase, alpha-fucosidase, and alpha-sialidase were detected in peripheral blood leukocytes and skin fibroblasts. CONCLUSIONS: The association of autosomal dominant ACD and arteriovenous fistulas might represent a novel syndrome. However, pathogenesis of these lesions remains unknown.

Adolescent↗
PubMed1995

Molecular analysis of genetic diseases: an overview for clinicians.

The identification of fetal genetic disease has, for the most part, relied on examination of an end product, such as analysis of factor VIII levels obtained from cord blood in fetuses at risk for hemophilia. Advances in molecular genetics have shifted our focus in prenatal diagnosis away from protein product analysis toward etiology, making new discoveries gleaned from the Human Genome Project relevant to clinicians. This review discusses the basic principles involved in gene-based diagnosis, highlighting the complexities of current approaches to molecular diagnosis of fetal genetic disease. Given an understanding of both the theory and practice of genetic analysis, the review covers the fundamental principles of molecular biology (structure, function, packaging, and regulation) and discusses recombinant DNA techniques presently used for the analysis of mutations. Clinical examples are presented to introduce the techniques most commonly employed in service laboratories: direct detection assays, where the specific mutation is recognized, and indirect detection assays, useful for the deduction of an inheritance pattern where the actual mutation or its gene is not known but may be closely linked to known DNA polymorphisms.

Anemia, Sickle Cell↗
PubMed1995

Delivery of molecular genetic services within a health care system: time analysis of the clinical workload. The Molecular Genetic Study Group.

The most recent discoveries in molecular genetics today are rapidly incorporated into clinical practice and have resulted in an unprecedented expansion of medical options. Despite this, the impact of molecular genetics on health care services has yet to be evaluated. In order to begin this assessment, clinical genetic workload was prospectively collected from cases where molecular genetic testing was considered. Participation involved all 16 urban and outreach genetic centers regionalized to service the entire population of 10 million within the Canadian province of Ontario. Molecular genetic testing has been clinically available for > 5 years, as part of a publicly supported genetic network in which there are no direct costs to residents. Cross-sectional data were collected on 1,101 clients from 544 families involving 1,742 clinical actions relating to diseases in which molecular (DNA) tests were considered. Median times per clinical genetic action were as follows: formal counseling (60 min), case review (15 min), phone call (10 min), letter (15 min), specimen arrangement (15 min), and interpretation of molecular test results (10 min). Times varied significantly with the inheritance pattern of the disease, topics involved, and location. For any given genetic case, multiple clinical actions resulted in substantial time spent by the genetic professional. Clerical and administrative times were not captured. Workload unit measurements similar to those currently employed in hospital laboratories may be helpful for predicting the clinical resources and personnel that will be required as the use of molecular genetics by other medical specialties increases.

Analysis of Variance↗
PubMed1994

Microphthalmia and associated abnormalities in inbred black mice.

Although microphthalmia and anophthalmia develop in many animals, they are a consistent and frequent finding in inbred and congenic strains of C57BL mice. Many investigators fail to take account of an incidence that may be as high as 12%, and this may lead to misinterpretation of experimental results. Further confusion may arise from the higher frequency in female mice and from the effects of various environmental and breeding conditions. In anophthalmic and severely microphthalmic mice, there is faulty tear drainage function, which often leads to ocular infections. It should be emphasized that these infections are a function of the ocular malformations arising from the genetic characteristics of C57BL strains and do not represent a failure in proper animal husbandry practices. Histologic studies confirm the consistency and the variability of the ocular findings in these strains. The eye abnormalities may be unilateral or bilateral and, for unexplained reasons, have a strong predilection for the right eye. Microphthalmia may be subtle and clinical anophthalmia may actually represent severe microphthalmia. Accordingly, any conclusions for these inbred strains regarding the eyes should be accompanied by careful microscopic examination of all animals. The most common findings include central corneal opacities, iridocorneal and corneal-lenticular adhesions, abnormal formation of the iris and ciliary body, cataracts, extrusion of lens cortical material with dispersion throughout the eye, failure of vitreous development, and retinal folding. The incidence of all of these findings is increased by exposure to alcohol at critical stages of embryogenesis. Mesodermal dysgenesis of the anterior segment in human eyes mimics the findings seen in inbred C57BL strains of mice, although severe microphthalmia or anophthalmia is less commonly seen. These similar human findings have been associated with a complexity of chromosomal abnormalities and inheritance patterns. Development of the fetal alcohol syndrome in human eyes also provides a phenocopy of the anterior segment abnormalities of mice and of the human familial syndromes. The events, which result in abnormalities in mice and humans, all center around the time in embryogenesis when the optic cup and lens vesicle are developing. In all instances, the lens tends to be smaller than normal and may be displaced in position with relation to the optic cup. This relationship between lens and optic cup is critical in normal development of other ocular structures, including the iris, ciliary body, vitreous, and retina.(ABSTRACT TRUNCATED AT 400 WORDS)

Animals↗
PubMed1993

[Progress in diagnosis and treatment of juvenile parkinsonism].

The diagnosis and treatment of juvenile parkinsonism (JP) is described. There was a high incidence of familial JP (58.1%), and its inheritance pattern was usually an autosomal recessive type. The patients with JP presented with improvement of parkinsonian symptoms following sleep and dystonic posture of the feet as specific signs. The tremor was a fine postural, and impairment of postural reflex was prominent. In the treatment of JP, it is important to control the wearing-off phenomenon and the dopa-induced choreic dyskinesia usually occurring in the extremities. A small dose of levodopa with decarboxylase inhibitor has to be carefully administered several times a day. The clinical course of JP is very slowly progressive compared with that of Parkinson's disease.

Adolescent↗
PubMed1994

[Mitochondrial encephalomyopathies].

Mitochondrial Encephalomyopathies are primary disorders of energy metabolism recently described. They are the result of mitochondrial abnormalities with a wide spectrum of syndromes implying a multisystemic but predominantly muscular and cerebral involvement. Biochemical, histological, imagiologic and clinical features of the three well known mitochondrial syndromes (MERRF, MELAS and KSS) are described, as well as the mitochondrial genetics and maternal inheritance pattern.

Energy Metabolism↗
PubMedDate not supplied

[Gorlin-Goltz syndrome with odontogenic keratosis. Report on a patient followed for 10 years].

A patient with Gorlin-Goltz syndrome (nevoid basal cell carcinoma syndrome) is described. This disease has an autosomal dominant inheritance pattern with complete penetrance and extremely variable expressivity. The case report seems to represent a new mutation. Gorlin-Goltz syndrome is characterized by a lot of symptoms primarily involving the skin, central nervous system, and skeletal system. In 90% of the patients, nevoid basal cell carcinoma syndrome is associated with recurring odontogenic keratocysts. Also our patient showed recurrent jaw and maxillary cysts, for this reasons he has been followed for 10 years to the Oral Pathology Service of Galliera Hospital.

Basal Cell Nevus Syndrome↗
PubMed1994

Bilateral absence of maxillary and mandibular second premolars: a clinical, genetic and dermatoglyphic study.

In the report presented here the mode of inheritance pattern of absence of maxillary and mandibular second premolars will be investigated by pedigree analyses and dermatoglyphic studies of a patient who showed the trait and his family members. An 11-year-old male patient with caries with bilateral absence of maxillary and mandibular second premolars was observed. Most of the dermatoglyphic traits observed in the patient were also found in the father and the sister of the patient.

Anodontia↗
PubMed1993

A closely linked complex of mouse mast cell-specific chymase genes on chromosome 14.

Mouse mast cells differentially express at least four chymases (mouse mast cell protease (mMCP) 1, mMCP-2, mMCP-4, and mMCP-5), a tryptase (mMCP-6), and an exopeptidase (mouse mast cell carboxypeptidase A (mMC-CPA)). The previously uncharacterized 2.5-kilobase mMCP-2 gene was isolated and found to consist of 5 exons. The 5'-flanking region of this gene is 89, 93, and 42% similar to that of the mMCP-1, mMCP-4, and mMCP-5 genes, respectively. Inheritance patterns of restriction-enzyme fragment length polymorphisms of these six mast cell protease genes in recombinant inbred mouse strains and interspecific backcrosses were used to determine their chromosomal locations. The mMCP-6 and mMC-CPA genes are located on chromosomes 17 and 3, respectively, whereas the four mast cell chymase genes all reside on chromosome 14 linked to a gene complex that encodes four cytotoxic T lymphocyte granzymes. Pulsed-field gel electrophoresis of genomic DNA digests demonstrated that the mMCP-1, mMCP-2, and mMCP-5 genes are within 850 kilobases of each other. Although clustering of the serine protease genes on chromosome 14 may be important at a higher level of genomic organization, the ability to independently induce or suppress the steady-state levels of the four chymase transcripts by treatment of mast cells with cytokines suggests that gene clustering is not the most critical factor for coordinate expression of these proteases. Because of the unique features of their tertiary structures, the substrate specificities of the serine proteases encoded by genes at the chromosome 14 complex are predicted to be more limited than those of pancreatic chymotrypsin and pancreatic trypsin, whose genes reside on chromosomes 8 and 6, respectively. Based on present day genomic distribution and sequence similarities, we propose that a primordial gene that encoded a serine protease with restricted substrate specificity underwent extensive duplication and divergence to form a family of cytokine-regulated transcripts from genes on chromosome 14.

Amino Acid Sequence↗
PubMed1994

Clinical consequences and treatment of primary immunodeficiency syndromes characterized by functional T and B lymphocyte anomalies (combined immune deficiency).

OBJECTIVE: To review the clinical presentation and outcome of patients with an unusual primary T + B lymphocyte immunodeficiency syndrome, characterized by the presence of T lymphocytes with no detectable gross phenotypic anomaly, but which are not activated in vitro or in vivo in response to antigens, although they do respond to mitogens. METHODS: A retrospective analysis of clinical and immunological data recorded in 25 cases. Acquired immunodeficiencies and known primary T cell immunodeficiency syndromes (severe combined immunodeficiency syndrome, Di-George syndrome, Wiskott-Aldrich syndrome, cartilage hair hypoplasia, Omenn's syndrome, ataxia telangiectasia, defective expression of major histocompatibility complex class II molecules, and defective expression of the CD3/T cell receptor complex) were excluded. RESULTS: The patients had severe and particularly protracted infections, mainly of the respiratory tract and gut. Severe viral infections, generally due to herpes viruses, occurred in nearly two-thirds of the patients, with a median follow-up of 54 months. Autoimmune manifestations are frequent (60%), targetting mainly marrow-derived cells, and were characterized by a tendency to relapse and by a dependence on immunosuppressive therapy. Allergic manifestations were also frequent (48% of cases). Eight of the 19 patients who had not undergone bone marrow transplantation died. All but one of the 11 survivors had moderate to severe sequelae. Bone marrow transplantation seemed to be the treatment of choice, because four of six recipients of HLA-identical (n = 2) or nonidentical (n = 4) marrow are alive and the immune deficiency has been corrected. CONCLUSION: Early recognition of these life-threatening syndromes may improve the chances of cure. Despite common clinical manifestations and prognosis, these functional immunodeficiencies appear heterogeneous regarding inheritance pattern and at least existence of a B cell immunodeficiency.

Adolescent↗
PubMed1993

Multifactorial dependence of congenital malformations.

Birth prevalence of congenital malformations ranges between 2 and 6%, depending on the population. Congenital malformations significantly contribute to the causes of early and late infant mortality as well as to the development of severe handicaps. These facts make congenital malformations a serious medical and social problem. In many cases, the type and the severity of the defect together with anatomical location determine the fate of an infant in the very beginning of life. And this is the case independently of the quality and the method of treatment applied. These facts are the major motivation for the attempt to develop an effective method of primary prevention of congenital malformations. The effectiveness of this approach is strictly related to the amount of information on the etiology of congenital anomalies. The clinical and etiologic heterogeneity of congenital malformations is the major factor responsible for the inability to provide a clear and unequivocal definition of causes and to eliminate them from the environment. In addition, in a substantial number of malformations no etiologic factor could be identified. A special problem is created by malformations with a "threshold effect", where the disease liability results from genetic susceptibility and environmental triggering factors. If both components, genetic and environmental, exceed a certain threshold, the malformation appears. The paper discusses the major etiologic factors and inheritance patterns of congenital malformations and the practical implications for genetic counselling.

Causality↗
PubMed1993

A multicenter study of typical retinitis pigmentosa in Japan.

A nationwide, multicenter study of typical retinitis pigmentosa was carried out in collaboration with 13 university hospitals throughout Japan. A total of 253 patients, 122 males and 131 females, with a wide range of ages (mean 48 years), were registered during a two-month period in 1989. Determination of inheritance pattern revealed 30.2% autosomal recessive cases, 15.4% autosomal dominant, 0.5% X-linked, and 48.9% simplex, indicating a relative decrease in autosomal recessive cases and a relative increase in simplex cases in recent decades. The age at onset, initial symptom, and visual functions including visual acuity, visual field and electroretinogram showed a marked interindividual variability, but statistical analysis demonstrated that visual defects progressed with increasing age and disease duration. A correlation between the phenotypic variation and the genetic type was observed. This survey of retinitis pigmentosa in Japan provides information for counseling and rehabilitation of patients and encourages basic and clinical research of this genetic disease.

Adolescent↗