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PubMedDate not supplied

[Genetic studies in communication disorders].

OBJECTIVES: To review current literature on population, cytogenetic and molecular studies of specific language disorders (SLD) and pervasive developmental disorders (PDD). DEVELOPMENT: Clinical concordance studies in twins and in vertical familial groups suggest polygenic multifactorial modes of inheritance, but in some families an autosomal dominant model may be present. The data favour not a modular, but rather a molar model of the relationship between genes and neural abilities for communicative behaviors. Several extensive genome screenings have demonstrated linkage to specific markers on 7q for SLD, and on 7q and 2q for PDD. The strong evidence of linkage on 7q for both disorders has led to the hypothesis that this region contains several separate quantitative trait loci (QTL) related to different communicative abilities. Mutations in different QTL would facilitate the different disabilities and stereotyped behaviors associated with the phenotypic spectrum of PDD. There are other candidate regions for QTLs but the linkage is weaker and there is little agreement between studies; due, in part, to over extensive inclusion criteria and small sizes of familial groups. CONCLUSIONS: To enhance linkage research in further molecular genetic studies, clinicians must refine behavioral target traits when selecting familial groups and enlarge the size of familial groups by including non handicapped members with related behavioral traits. At present, a chromosome region in 7q shows the strongest evidence for communication related QTL, but other QTL need to be identified elsewhere in the genome in order to explain the genetic contribution to the large spectrum of language and autistic disorders.

Autistic Disorder↗
PubMed1976

High incidence of ventricular septal defects in a family.

A family is described in which eight children, belonging to two sibships, had ventricular septal defects. The diagnoses were based on the clinical, radiological and ECG findings. The findings are compatible with a multifactorial mode of inheritance carrying a recurrence risk of 25 to 50%.

Adolescent↗
PubMed1978

Six years' experience in a children's hospital genetic clinic.

A genetic clinic has been held once a week at the Red Cross War Memorial Children's Hospital for the past 6 years. During the period 1971--1977, 579 patients were seen, of whom 56% had genetic conditions due to chromosome defects, Mendelian traits or a multifactorial type of inheritance. In these, genetic counselling was a prime importance regarding prognosis, risk of recurrence and possibility of antenatal diagnosis. A further 25% of patients seen had conditions of non-genetic origin and could be reassured, while in the remaining 19% no specific causation was detected.

Chromosome Aberrations↗
PubMedDate not supplied

[The role of ret gene in the pathogenesis of Hirschsprung disease].

Hirschsprung disease is a congenital disorder with the incidence of 1 per 5000 live births, characterized by the absence of intestinal ganglion cells. In the etiology of Hirschsprung disease various genes play a role; these are: RET, EDNRB, GDNF, EDN3 and SOX10, NTN3, ECE1, Mutations in these genes may result in dominant, recessive or multifactorial patterns of inheritance. Diverse models of inheritance, co-existence of numerous genetic disorders and detection of numerous chromosomal aberrations together with involvement of various genes confirm the genetic heterogeneity of Hirschsprung disease. Hirschsprung disease might well serve as a model for many complex disorders in which the search for responsible genes has only just been initiated. It seems that the most important role in its genetic etiology plays the RET gene, which is involved in the etiology of at least four diseases. This review focuses on recent advances of the importance of RET gene in the etiology of Hirschsprung disease.

Chromosome Aberrations↗
PubMed1990

Macromastia in adolescence.

Macromastia is a deforming, disabling, and painful condition, especially in the adolescent. Multiple procedures have been advocated and are successful for the reduction of breast tissue. In addition, adjunctive therapy with hormones may prevent relapse. The hormonal influences on breast development and the etiology of macromastia remain complex and not well understood. It is safe to surmise that the pathologic condition is multifactorial, with both inherited and acquired aspects. In the various techniques for reduction, it is important to have a clear understanding of vascular and neural innervation of the breast in order to maintain maximum security in reduction without loss of excessive vital tissue. Although both sensory ability and lactation function are diminished with most procedures and eliminated with some, careful planning and patient counseling in all cases should lead to maximal benefit and optimal results.

Adolescent↗
PubMed1986

Comparative multiple threshold analysis: a possible new way for validating schizophrenia classifications.

Activ. nerv. sup. (Praha) 28, 2. 1986. 350 carefully selected schizophrenic probands and their parents and siblings were diagnosed according to three different clinical classifications and a multiple-threshold analysis was carried out within the framework of the multifactorial model of inheritance. The results suggest that of the three classificatory systems studied, Leonard's and Sneshnevsky's nosological system delineate relatively homogeneous subtypes from the clinical and genetic point of view, pointing to the promise these nosological systems have for the planning of future research in psychiatric genetics.

Evaluation Studies as Topic↗
PubMedDate not supplied

Recurrence risk for the relatives of delusional depressed patients.

The recurrence risks for major depression among the relatives of patients with delusional depression have been calculated using a computer program. The risk tables have been based on the data from the 454 first-degree relatives of 77 probands with delusional depression, the 503 first-degree relatives of 76 non-delusional probands and the 980 first-degree relatives of 153 controls. The results showed that: the familial aggregation of the delusional depression seem to follow the multifactorial pattern of inheritance (segregation analysis), the heritability of the delusional depression was found to be 62, the recurrence risk varies from 0.5% to 36.2% for the various relatives and tables for recurrence risks are provided.

Adult↗
PubMed1971

Studies on the nature and managment of psoriasis.

Prevalence of psoriasis in Caucasians is estimated as 2 to 3 percent. Sound epidemiologic studies on a worldwide basis are needed to secure accurate prevalence rates for comparative purposes. Utilizing Stanford's psoriasis life histories records, the genetics of psoriasis has been explored by various means: statistical census data, pedigree analysis, and twin studies. This research suggests a multifactorial pattern of inheritance for psoriasis, implying that both genetic and environmental components are responsible for the manifestation of the disease. At present it is not possible to point to any single causative factor. Some of the suggested areas for research include study of uninvolved skin, growth control in the psoriatic lesion, viral causes, immunological aspects, and lipid metabolism.

Adolescent↗
PubMed1984

Canine malignant hyperthermia susceptibility: erythrocytic defects--osmotic fragility, glucose-6-phosphate dehydrogenase deficiency and abnormal Ca2+ homeostasis.

Two dogs were diagnosed as malignant hyperthermia susceptible based on increased susceptibility (P less than 0.001) of biopsied muscle to caffeine-induced contracture. Erythrocytes from malignant hyperthermia and normal dogs were then examined for an antioxidant system deficiency. Values for serum muscle enzymes, reticulocytes and corpuscular hemoglobin were mildly elevated. Osmotic fragility was increased: hemolysis occurred at a NaCl concentration 10 mM higher than for normal dogs (P less than 0.001). A 35% glucose-6-phosphate dehydrogenase deficiency (P less than 0.001) with a 40% compensatory increase (P less than 0.01) in 6-phosphogluconate dehydrogenase activity was found. The membrane Ca2+-activated ATPase activity was abnormal: 100% increased with a 40% decreased Arrhenius activation energy (P less than 0.005) and increased thermostability. A 40% increased intracellular accumulation of total Ca2+ occurred in response to in vitro energy depletion in erythrocytes from one malignant hyperthermia dog (P less than 0.01). The multifactorial pattern of inheritance and the broad spectrum of malignant hyperthermia susceptibility are proposed to result from an antioxidant system deficit unmasking or aggravating an intrinsic muscle membrane anomaly. An individual from a family with a history of malignant hyperthermia or unexplained anesthetic death should be considered malignant hyperthermia susceptible if erythrocyte osmotic fragility is abnormal and there is a mild, unexplained elevation in serum creatine kinase.

Adenosine Triphosphatases↗
PubMed1984

[Genetic analysis of the structure of the predisposition to diabetes mellitus. II. The prevalence, morbidity and heritability of diabetes mellitus].

Prevalence of diabetes mellitus (D.M.) was estimated in several Moscow districts. The prevalence increases with the age from 0.073 in males and 0.085% in females at the age of 16-19 yrs to 4.9 in males and 6.2% in females at the age of 75 yrs and older. The overall prevalence of D.M. was 1.12%. The morbidity risks have the same patterns of increase: from 0.007 and 0.008% at the age of 0-4 yrs to 1.6 and 2.7% at the age of 75 yrs and older in males and females, respectively. The values of "cumulative" morbidity risk, for the population living long enough, derived from the estimates of age-specific morbidity risks were 6.57 for males and 11.93% for females. The estimate of correlation between first-degree relatives at onset-age of D.M. was 0.307. Accounted for the age-at-onset of the probands and for current ages of siblings, the estimates of recurrence risks, i.e. the probability to develop D.M. for siblings living long enough, were: 27.28 for sisters of the male-probands, 21.59 for sisters of the female-probands, 19.28 for brothers of male-probands and 9.62% for brothers of the female-probands. Thus, the family distribution of D.M., according to the sex of the probands and that of their relatives corresponds to the multifactorial model of inheritance for the diseases with sex-specific thresholds. The estimates of correlation in liability and that of heritability of D.M. calculated from the data on sibs, were 0.284 +/- 0.0351 and 0.568 +/- 0.0702, respectively. The data obtained show that hereditary factors play an essential role in the development of D.M. These results are of a practical interest for genetic counselling, as well as for establishing the preventive measures in the Public Health Service.

Adolescent↗
PubMed1997

[Family prevalence of idiopathic scoliosis].

OBJECTIVE: Review of the literature shows that, for the moment, the cause of idiopathic scoliosis remains unknown. It has been attributed to a wide variety of conditions, including genetics. The aim of this paper was to determine the frequency of antecedents and family prevalence of idiopathic scoliosis in first and second degree relatives. PATIENTS AND METHODS: During 1994-1995, the families, including first and second degree relatives, of 100 schoolchildren with idiopathic scoliosis were surveyed for scoliosis. The screening was done initially by clinical examination, the test of Adams and subsequently the diagnosis was confirmed by roentgenography. RESULTS: Our study showed the following results. Twenty-five percent of patients investigated had one or more affected individuals in their family. Prevalence of idiopathic scoliosis in first degree relatives was 5.16% and in second degree relatives 4.31%. It was more frequent in females than in males (p < 0.05). This prevalence is larger than that in the general population (1-2%). CONCLUSIONS: Our conclusion is that the mechanism of inheritance is most likely multifactorial. In view of the predominance of females, an X-linked inheritance is suggested.

Female↗
PubMed1998

[Genetic and environmental factors in Graves disease. A review].

The aetiology of Graves' disease fits a multifactorial pattern of inheritance, where an interplay of genetic and environmental factors is necessary for the development of autoimmune hyperthyroidism. Family studies, twin studies and studies of genetic markers all confirm the existence of one or more genetic factors in the aetiology of Graves' disease. Since the familial occurrence of Graves' disease cannot be fully explained by the distribution of genetic markers, there may also exist one or more environmental factors in the aetiology of Graves' disease. Environmental factors such as iodine intake, exposure to certain drugs, smoking habits, stressful life events and a number of infectious agents have all been found associated with Graves' disease. There is no evidence of an environmental factor as a causative factor in Graves' disease. Future studies should be carried out prospectively involving both patients with Graves' disease and genetically predisposed persons, e.g. the families of patients with Graves' disease. Prospective population-based studies among monozygotic twins discordant for Graves' disease offer unique opportunities to clarify the role of environmental factors in the aetiology of Graves' disease.

Diseases in Twins↗
PubMed1984

A genetic study of hypoalphalipoproteinemia.

Complex segregation analysis under the unified mixed model of inheritance (major gene and multifactorial) is performed on families ascertained through 23 probands with hypoalphalipoproteinemia (depressed HDL-cholesterol, denoted HDL-c). Evidence for segregation of a recessive major gene for depressed HDL-c with frequency q = 0.116, in addition to multifactorial transmission (H = 0.572), is found in these families. Reanalysis of a subset of families with severely depressed HDL-c confirms the conclusions based on the original analysis, except that different definitions of "affection" give rise to different estimates of gene frequency. Our finding of a recessive mode of inheritance differs from previous claims for a dominant gene because previous analyses did not use a mixed model for segregation analysis of hypoalphalipoproteinemia. When the significant multifactorial background is neglected, we also find evidence for the invalid claim of a dominant gene. This demonstrates the necessity of using mixed models for determining the mode of inheritance of a given phenotype.

Cholesterol, HDL↗
PubMed1989

Genetic analysis of the cause of exencephaly in the SELH/Bc mouse stock.

A new mouse stock, SELH/Bc, having a high liability to exencephaly has been developed. About 17% of SELH fetuses are exencephalic. The genetic cause of this exencephaly was investigated in a cross to a normal related ICR/Bc strain and in subsequent classical genetic crosses (F2, first and second backcrosses). The data were compared with a number of genetic models, including that of a single recessive mutation with 17% penetrance. The data did not fit single-locus inheritance. The expectations from the multifactorial threshold model based on an underlying quantitative liability trait with additive inheritance were found to fit the data very well. The number of loci involved was estimated to be about two or three. About 70% of exencephalic SELH fetuses are female, and there is no overall deficiency of males. The relatively higher risk in females was constant across the genetic backgrounds in the experiment. In summary, the liability to exencephaly in SELH mice appears to be a multifactorial threshold trait, and it therefore resembles human neural tube defects in type of genetic etiology. SELH therefore may be a valuable animal model in the study of neural tube defects.

Animals↗
PubMed2004

Familial segregation of venous thromboembolism.

BACKGROUND: Venous thromboembolism (VTE) is postulated as a complex disease, but the heritability and mode of inheritance are uncertain. OBJECTIVE: To determine if VTE (i) segregates in families; (ii) is attributable to inheritance, shared environment, or both; and (iii) the possible mode of inheritance. PATIENTS AND METHODS: In a family-based study of relatives from 751 probands (60% female) with objectively diagnosed VTE (without cancer), we performed complex segregation analyses corrected for mode of ascertainment, considering age-specific, non-gender- and gender-specific liability classes under Mendelian and non-Mendelian assumptions. We tested 12 models categorized into four model sets: (i) sporadic (assumes no genetic effect); (ii) Mendelian inheritance of a major gene (including dominant, additive, recessive or codominant classes); (iii) mixed model (Mendelian inheritance including the same four classes plus the effect of polygenes); and (iv) non-Mendelian. RESULTS: Among the 16 650 relatives, 753 (48% female) were affected with VTE, of whom 62% were first-degree relatives. The sporadic model was rejected in both non-gender- and gender-specific liability class analyses. Among the remaining gender-specific models, the unrestricted (non-Mendelian) inheritance model was favored with an estimated heritability of 0.52. Among the Mendelian models, the dominant mixed model was preferred, with an estimated heritability and major disease allele frequency of 0.62 and 0.25, respectively, suggesting an effect of several minor genes. CONCLUSION: A multifactorial non-Mendelian inheritance model was favored as the cause for VTE, while a model postulating a purely environmental cause was rejected. VTE is probably a result of multigenic action as well as environmental exposures.

Adolescent↗
PubMed1997

Seizure risk in offspring of individuals with a history of febrile convulsions.

UNLABELLED: One-hundred and seventy-nine offspring of 120 probands with a history of febrile convulsions (FC) were studied to determine the risk of seizures and possible factors influencing this risk. The conditions for this study were especially good since all of the probands had undergone clinical and EEG examinations as well as an assessment of family history of seizures during childhood. Hence, for the first time the seizure status of the probands' parents could be included in the calculation of risk in offspring. In sibs the risk was highest if the mother of the proband had experienced seizures (20% vs 9% in offspring of probands with nonaffected parents). Similarly, offspring of probands with affected mothers had a much higher risk (27%) than offspring of probands with affected fathers (7%). Our findings point to a maternal preponderance in the transmission of FC liability. No relationship was found between the presence of EEG traits of a genetic seizure liability (theta rhythms, spikes and waves, photoparoxysmal response, focal sharp waves) in probands during childhood and the seizure risk in their offspring. The present data provide no basis for forming an hypothesis regarding the possible mode of inheritance of FC. This is not surprising since FC as already shown in the EEG-are not a homogeneous disorder, but are caused by a variety of genetic factors occurring in variable constellations. Possibly, in a subgroup of probands with seizure affected mothers the susceptibility to FC follows a multifactorial polygenic mode of inheritance. CONCLUSION: The seizure incidence in offspring of individuals with a history of FC was 10% (only FC in 64% of the affected offspring). Offspring of females with affected parents were at an increased risk. Pathological childhood EEG findings of the probands were not related to an increased risk in offspring.

Adult↗