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PubMed1991

Prevalence & spectrum of congenital malformations in a prospective study at a teaching hospital.

A prospective survey for congenital malformations at birth, at a teaching hospital, over a period of two and half years on 9405 consecutive single births has shown that prevalence of major congenital malformations in live births was 1.6 per cent and in still births 16.4 per cent. There was no significant difference in the prevalence of congenital malformations between Hindus (2.0%) and Muslims (2.7%) but amongst Muslims with consanguinity the prevalence of congenital malformation was 4.6 per cent compared to 2.3 per cent in non-consanguineous Muslim spouses (P less than 0.05). Open neural tube defect was the single most common anomaly (31.7% of all malformations) occurring at a rate of 4.7 per 1000 single births, with equal prevalence of anencephaly and meningomyelocoele. Case control study showed that history of concomitant medical illness, drug intake during the first trimester, threatened abortion, hydramnios and pre-eclamptic toxaemia in the current pregnancy were significantly associated with the occurrence of congenital malformations.

Congenital Abnormalities↗
PubMed1990

A radiological presentation of neonatal and infantile syndromes.

The syndromes I have described are unfortunately not rare in Saudi and so the role of genetic counselling is an important, if difficult, one. Consanguinous marriages are a key cause of these diseases, but not one easily avoided. Marriage rituals in this part of the world are vastly different from those in the west. Many Saudis regard consanguinous unions, for example between cousins, as a further strengthening of family bonds. The role of genetics is not fully appreciated by parents and genetic disease is often attributed to other, extraneous causes: God's will; an illness suffered by the mother during pregnancy; or to the 'evil eye.' Even when genetic counsellors actively discourage parents who are at risk from having future children, this advice goes unheeded. Parents prefer to rely on: 'Insh'allah' or God's will' to safeguard them. Abortion is strictly prohibited by religious law and any affected offspring are cared for by a dedicated and loving family under the guidance of the Holy Qu'ran. They are rarely institutionalized.

Craniofacial Dysostosis↗
PubMed1990

[Hemolyzing antibodies to markers of the P blood factor system as a problem in blood transfusion and pregnancy. With reference to serology, biochemistry and genetics].

The extremely rare phenotypes p, P1k and P2k (0.0005-0.0006%) of the blood group P system are usually found in consanguinous families. In the serum of these persons haemolytic antibodies with the specificity anti-PP1Pk and anti-P are found, causing severe haemolytic reactions after transfusion of incompatible blood. Because of their rarity it is difficult to find compatible blood donors. The antibodies are also associated with abortion early in pregnancy. Since 1948 at the "Institut für Blutgruppenserologie der Universität Wien" 4 persons of the phenotype p and 3 of the type P2k were observed in altogether 5 families. Two of them needed blood transfusions, the one p patient received p blood from her sister, who likewise gave blood to the other p patient. This latter patient additionally received three blood units which had been stored in liquid nitrogen and came from Austria and from the European bank of frozen blood in Amsterdam (Council of Europe). The pedigrees of three families with 5 probands out of the 7 observed cases could be reconstructed and showed consanguinity, partly some generations back. A genetic model valid at the moment for the biosynthetic pathway of the P antigens is demonstrated and the appropriate serological characteristics of the haemolytic antibodies are shown. The seven antibodies are partly IgG and partly IgM antibodies, optimally reacting using the indirect antiglobulin test or enzyme-treated red cells. The range of the antibody titres was between 1:8 and 1:1024. Absorption of Anti-PP1Pk sera with red cells of type P1 to get Anti-Pk and inhibition with hydatidcyst fluid and globoside to receive Anti-P and Anti-P1 + Pk, respectively were partly successful.

Abortion, Spontaneous↗
PubMed1990

Lymphocytotoxic antibodies in patients with systemic lupus erythematosus & their household contacts.

Twenty patients with systemic lupus erythematosus (SLE) and their 51 household contacts were screened for the presence of lymphocytotoxic antibodies. A high prevalence of lymphocytotoxic antibodies (LCTAB) was observed in the patients (80% against T cells and 100% against B cells). The antibodies carried specificity for HLA-B5/35 and HLA-DR2/DR3. A high prevalence of LCTAB was also observed in contacts (55% LCTAB-T cells, 88% LCTAB-B cells) with no difference being seen between consanguineous and non-consanguineous male or female relatives.

Adult↗
PubMed1989

CR1 polymorphism in hydralazine-induced systemic lupus erythematosus: DNA restriction fragment length polymorphism.

The contribution of genetic factors in the reduction in erythrocyte CR1 levels observed in hydralazine (Hz) induced systemic lupus erythematosus (SLE) was investigated by determining the frequency of a HindIII restriction fragment length polymorphism (RFLP) in the CR1 gene. This RFLP is associated with quantitative erythrocyte CR1 expression. Individuals who have developed SLE as a reaction to Hz therapy, consanguinous relatives of the Hz-SLE patients, controls who had been treated with Hz without any adverse reaction, and the consanguinous relatives of these controls were included in this study. No difference was found in the frequency of occurrence of the alleles associated with CR1 expression between the Hz-SLE patients and the control groups (P greater than 0.2). Individuals from the Hz-SLE group who were homozygous for the 7.4 kb 'high expressor' allele had lower mean levels of erythrocytes CR1 (564 +/- 65) than the corresponding homozygous subgroups within the Hz-SLE relative group (774 +/- 46), the Hz control group (756 +/- 80) and the Hz control relatives group (825 +/- 66). In addition, 50% of the Hz-SLE patients in the 'high expressor' subgroup who had less than 500 CR1 per erythrocyte had elevated levels of circulating immune complexes. This study suggests that individuals who are genetically low expressors of erythrocyte CR1 are not predisposed to developing SLE in response to Hz therapy, and that in a subgroup of genetically 'high expressors', low CR1 levels are associated with elevated levels of circulatory immune complexes.

Alleles↗
PubMed1986

Epidemiologic aspects of epidermodysplasia verruciformis (L-L 1922) in Japan.

A survey of epidermodysplasia verruciformis (EV), a skin disease caused by human papillomavirus (HPV), was made by means of a questionnaire sent to 92 university hospitals. Replies were obtained from 68 hospitals (74% recovery) reporting 66 patients. Fewer patients were reported from north-eastern Japan than from south-western Japan. Many EV patients were from families of consanguineous marriages (44%), showing a high incidence of intra-familial onset after consanguineous marriages. The complication of malignant tumors was observed in 36 of 62 cases (58%). Malignant tumors of the skin developed at an early age in EV patients. These cancers developed predominantly in exposed areas of the skin (72%). The time from onset of skin lesions to the onset of cancer seemed to be related to the nature of the lesions in EV patients. These findings suggest that the interaction of HPVs, ultraviolet rays and host factors is associated with the development of skin carcinomas.

Adolescent↗
PubMed1988

Perinatal lethal osteogenesis imperfecta (OI type II): a biochemically heterogeneous disorder usually due to new mutations in the genes for type I collagen.

To resolve uncertainty concerning the inheritance of the perinatal lethal form of osteogenesis imperfecta (OI type II), we collected family data and radiographs for 71 probands and analyzed the collagens synthesized by dermal fibroblastic cells cultured from 43 of the probands, 19 parental pairs, and single parents of each of four additional probands. In 65 families for which there were complete data on sibship size, there was recurrence of the OI type II phenotype in five families such that six (8.6%) of 70 sibs were affected. In two families with recurrence, the radiographic phenotype was milder than that for the remainder; and one of those families was consanguinous, suggesting autosomal recessive inheritance. In the remaining three families there was no evidence of consanguinity, but in one of them the structure was compatible with gonadal mosaicism in the mother. In studies of collagens synthesized by cells from 43 infants, we identified two probands with separate rearrangements in an allele of one of the genes of type I collagen; but in the rest there were subtle mutations that disrupted the normal triple-helix structure of type I collagen molecules. In two probands we identified de novo mutations; in 16 additional families cells from the parents made only normal collagens, compatible with new mutations in their offsprings. These findings indicate that the OI type II phenotype is biochemically heterogeneous, that the majority result from new dominant mutations in the genes encoding type I collagen, and that some recurrences can be accounted for by gonadal mosaicism in one of the parents.

Cells, Cultured↗
PubMed1987

[Demographic consequences of genetic load: a model of the origin of the incest taboo].

The prohibition of copulations among near relatives may raise the fitness of population. This effect being irregular and insignificant for a distinct generation, becomes apparent in evolutionary time intervals through the natural selection of populations with incest-taboo. The "characteristic selection time" theta depends on typical population size, genetic damage and the mean rate of population growth. The estimation obtained for theta permit us to assert that the model describes the phenomenon of "socio-cultural selection" in prehistory. The model shows the demographic specificity of small populations. The problem of the number of consanguineous marriages is considered in detail. New explanation for deviation of the observed frequency of consanguineous marriages from classical estimations is proposed.

Genes, Lethal↗
PubMed1985

Diagnostic survey at Yamanashi School for Blind: importance of heredity.

The commonest cause of blindness among the 67 patients at the Yamanashi School for the Blind was congenital cataract (16). Next was retinitis pigmentosa or choroido-retinal degeneration (8), then retinopathy of prematurity (7). Congenital glaucoma and brain tumor each contributed five. Four were due to microphthalmia/micro-cornea and five to high myopia. Direct ocular trauma caused three. Two each were attributable to complete albinism, aniridia, congenital nystagmus and bilateral retinoblastoma. Single cases each of anophthalmos, Behçet's disease, Hallerman-Streiff syndrome, hydrocephalus, macular degeneration and optic atrophy were recorded. 41.8% of all cases were "very probably" hereditary and a further 10.4% "probably" so. 12.2% of the hereditary cases had consanguineous parents. An autosomal recessive (AR) cause is the likeliest explanation for the majority of the nonenvironmental causes (42.9% very probably AR and 14.3% probably AR), so that the possibility of prevention by genetic counseling was limited, but should have been given as soon as the first affected child was born. Parental consanguinity supports an autosomal recessive cause. 10.2% are very definitely due to an autosomal dominant gene; in them, counseling may well also have had a limited effect but might have prevented the birth of one or both of the siblings with aniridia inherited from the mother, and at least two, if not all three, of the three siblings with congenital cataract also inherited from the mother.

Adolescent↗
PubMed1984

Intra-familial correlations of dermatoglyphic traits in South Sinai Bedouins.

Correlation coefficients for some dermatoglyphic traits of the Muzeina Bedouins of South Sinai were determined in sib-sib, father-son, father-daughter, mother-son and mother-daughter comparisons. From among approximately 3000 members of the tribe, 60 male sib-sib pairs and 33 parental pairs, each with one son and one daughter, were selected for examination. The dermatoglyphic traits included finger pattern types, ridge counts with their intra-individual variability and bilateral asymmetry, and the incidence of palmar patterns. In such a small, biologically isolated and consanguineous population, the correlation coefficients for the diverse dermatoglyphic traits are expected to show some peculiarities. In general, we found them to be lower than in other populations. The difference is small for the complex traits with a multifactorial genetic determination, and more pronounced for the traits with a simpler genetic base. With diminution in the number of genes participating in the realization of a trait, the father-mother correlations increase owing to the intense consanguinity.

Adult↗
PubMed1983

Population structure of the Indian people: some microevolutionary aspects.

Some aspects of population structure, namely village endogamy, marital distance and consanguinity in India are discussed. These parameters show social and geographic variation. The role of culture is of great importance in determining the mating pattern of a population. In the Indian situation, group endogamy in general does not cause inbreeding. Consanguinity is a cultural phenomenon of long-standing tradition, and so far there is no strong indication of a temporal change.

Biological Evolution↗
PubMed1982

[Genetics and hemopoietic neoplasia].

Genetic factors suspected in the etiology of human hemopoietic neoplasia, such as leukemia, lymphoma and multiple myeloma, are reviewed. High incidence of consanguineous marriage was found in parents of familial leukemia in siblings. It was also noted that the age of patients with familial leukemia in children of consanguineous parents was younger than that of cases whose parents were not related. These findings suggest that genetic factors may play an important role in the etiology of familial leukemia in siblings. According to the frequencies of familial aggregations in close relatives, the genetic relationships were supposed to be important in chronic lymphocytic leukemia and acute leukemia, but not in chronic granulocytic leukemia. Increased prevalence of autoimmune diseases in relatives of leukemic patients suggests a possibility of genetic immunodeficiency as a common etiologic factor in both diseases. Immunodeficiency was found in unaffected relatives of patients with familial leukemia and lymphoma. Genetic factors were also suggested by the familial occurrences of multiple myeloma and primary macroglobulinemia, and the incidence of benign monoclonal gammopathy in relatives of patients with these diseases. HLA studies revealed the increased frequencies of A2 in acute lymphocytic leukemia, of B5 and B18 in Hodgkin's disease, and of A5 and B18 in multiple myeloma. From such relationships existing between familial immunodeficiencies and hemopoietic neoplasia, genes regulating the immune responsiveness might be involved in susceptibility to these diseases.

Adolescent↗
PubMed1994

Clinical and genetic features of ataxia-telangiectasia.

There are several variants of ataxia-telangiectasia (A-T): classical A-T with marked radiation sensitivity; classical A-T with intermediate levels of radiation sensitivity; mild A-T with intermediate levels of radiation sensitivity; A-T without telangiectasia; A-T without oculomotor apraxia; and A-T with microcephaly. These disorders are probably caused by different allelic mutations, because affected sibs resemble the index patients, and because there is an association of certain haplotypes of 11q22-23 with specific phenotypes. The Nijmegen Breakage Syndrome, with its lack of ataxia, seems on clinical grounds to be a different disorder. Although A-T is almost always inherited as an autosomal recessive, there are some unusual features; an unexpectedly low parental consanguinity rate, an incidence in sibs that is < 0.25, and occurrence of disease in many different races and in the offspring of mixed race unions. Moreover, looking at haplotypes from 63 UK patients, there is a remarkably low incidence of homozygosity. An autosomal recessive condition that is deficient in parental consanguinity, and in homozygosity for the region around the gene, can be explained by J. H. Edwards' hypothesis that homozygosity for alleles at a neighbouring locus are lethal early in embryogenesis. Other possible mechanisms to explain the unusual genetic features are discussed.

Adolescent↗
PubMed1994

[Eruptive fever of rare cause: familial hemophagocytic lymphohistiocytosis].

BACKGROUND: Clinical onset of familial lymphohistiocytosis is non-specific so that the diagnosis of this rare and severe disease is difficult. CASE REPORT: An 8 week-old girl was admitted suffering from fever and rash. She had hepatosplenomegaly. She developed pancytopenia (Hb: 6.6 g/100 ml; WBC: 4500/mm3; platelets: 25,000/mm3) impaired liver function tests (prothrombin: 15%, blood bilirubin: 40 mg/l; SGOT: 160 mU/ml) and hypofibrinogenemia (0.3 g/l) within a few days. Bone marrow examination showed diffuse histiocytic infiltration and erythrophagocytosis, suggesting a syndrome of inappropriate macrophage activation. The age of the patient, parental consanguinity and absence of specific infection led to diagnosis of familial erythrophagocytic lymphohistiocytosis. The patient died 18 days after clinical onset. CONCLUSION: The diagnosis of this unusual syndrome in infants is strongly supported by parental consanguinity as seen in our case or a positive family history. In this condition, erythrophagocytosis is often a marked feature.

Exanthema↗
PubMed1994

Risk factors for term intrauterine growth retardation: a community-based study in Karachi.

Reported are the results of a community-based prospective study in four urban squatter settlements in Karachi that was carried out to assess the incidence of and risk factors for intrauterine growth retardation. The incidence of term intrauterine growth retardation was 24.4% among 738 singleton births. The socioeconomic and biological risk factors that were found to be statistically significant in a bivariate analysis were included in a logistic regression model to assess their independent effects. The major risk factors were low level of maternal education, paternal unemployment, consanguinity, short birth-to-conception intervals, short maternal stature, and low maternal weight. The population risk estimates suggest the desirability of public health interventions to improve maternal weight and birth spacing and of improvements in socioeconomic conditions, especially maternal education. Public education programmes to discourage consanguineous marriages should also be considered.

Anthropometry↗
PubMed1994

Risk factors for intrauterine growth retardation: results of a community-based study from Karachi.

There is a serious lack of community-based information on low birthweight or intrauterine growth retardation from Pakistan. A community based prospective study was conducted in four squatter settlements of Karachi, to examine the prevalence and risk factors for adverse pregnancy outcome. This paper reports on the prevalence and risk factors for intrauterine growth retardation (<10th percentile birthweight gestational age) among 755 singleton births. The incidence of intrauterine growth retardation was 25.4% (192 intrauterine growth retarded and 563 appropriate for gestational age). Major socioeconomic risk factors identified were low maternal education (RR = 1.4, 95% CI = 1.0,2.1) and poor housing material (RR = 1.7, 95% CI = 1.0,3.0). Among the significant biologic factors, primiparity (RR = 1.9, 95% CI = 1.4,2.7), consanguinity (RR = 1.4, 95% CI = 1.4,2.7), consanguinity (RR = 1.4, 95% CI = 1.1,1.8), short birth to CI = 1.1,2.1), short stature (RR = 2.2, 95% CI = 1.6,3.0), low maternal weight (RR = 2.0, 95% CI = 1.6,2.5) and non-vegetarian diet (RR = 2.3, 95% CI = 1.3,4.2) were especially important. Investigations to assess the adverse mortality and morbidity effects of intrauterine growth retardation are ongoing.

Adult↗
PubMed1993

[Robinow's syndrome associated with deafness].

BACKGROUND: Robinow mesomelic dysplasia is an autosomal dominant or recessive condition that results is a flat facial profile, mesomelic shortening and frequent genital hypoplasia. This report describes a case with bilateral deafness. CASE REPORT: A boy was born at term to consanguineous parents who have no morphological abnormalities. The child's older brother and sister are normal. The patient was admitted at the age of 5 months because of abnormal features: enlarged skull with prominent forehead, flat facial profile, hypertelorism, small chin, shortening in the mesomelic segments of the limbs and genital hypoplasia without cryptorchidism. X-rays confirmed the mesomelic shortening and showed radial head dislocation and vertebral abnormalities. These abnormalities were more evident at the age of 2 1/2 years, when a bilateral sensorineural hearing loss was detected. CONCLUSION: This case of Robinow has all the characteristic findings plus deafness. The parental consanguinity suggests that its inheritance is autosomal recessive.

Abnormalities, Multiple↗
PubMed1993

Peters'-Plus syndrome with agenesis of the corpus callosum: report of a case and confirmation of autosomal recessive inheritance.

We describe a male infant, born to healthy consanguineous parents, with Peters'-Plus syndrome. The syndrome includes corneal opacification, short stature, cleft lip and palate, low set ears, short hands and feet and mental retardation. Cranial CT scan showed agenesis of the corpus callosum which has not, to our knowledge, previously been described in Peters'-Plus syndrome patients. The consanguinity of the parents is in agreement with the proposed autosomal recessive inheritance.

Abnormalities, Multiple↗