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Results for “Consanguinity”

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PubMed1991

Relationship between birth order of spouses with different degrees of consanguineous relationship.

The relationship between birth order of spouses with different degrees of consanguinity is examined in a sample of 1826 couples belonging to the endogamous Vadde Fisherfolk of Kolleru Lake, Andhra Pradesh, India. We attempt to explain the wide variation in the frequency of different kinds of consanguineous marriages through the age-sex structure of the population in general and especially of the related families. This structure may also be manifested in the association between the birth orders of spouses. A highly significant and large correlation between the birth orders of spouses in uncle-niece marriages and a gradual decrease in the correlation with increase in remoteness of the relationship between the spouses were observed. Given the distribution of age differences between the spouses and assuming a standard age-sex structure, it seems possible to estimate the optimum frequency with which at least close consanguineous marriages occur in any particular population.

Age Factors↗

PubMed1990

[Consanguinity marriages in Brazil].

This short review deals with the following problems: 1. frequencies of consanguineous marriages in Brazil; 2. their effects on precocious mortality (from abortions up to and including infant-juvenile mortality) and abnormalities among the survivors; 3. genetic counseling for consanguineous marriages; 4. reduction of the prenatal and post-natal damage in consequence of the abolition of the consanguineous marriages in Brazil.

Brazil↗

PubMed1990

Two cases of congenital hepatic fibrosis in children of consanguineous marriage.

An association of congenital hepatic fibrosis (CHF), Caroli's disease, medullary sponge kidney, type II interventricular defect with right transposition of the aorta, multiple cervical vertebra malformations, and first sacral vertebra schisis in a 16 year old son of consanguineous parents (consanguinity factor = 1/32), is described. The patient's sister presented asymptomatic CHF and medullary sponge kidney only. Parental consanguinity in this case lends support to the view that CHF, medullary sponge kidney and cardiac malformations are more likely to be manifestation of a single recessive gene, with a varying phenotypic expression, than of different mutant genes.

Adolescent↗

PubMedDate not supplied

[Consanguinity and public health. Algerian study].

The frequency of consanguinity in Algeria and its impact on the national health were computed through several studies: demographic inquiries (national census) and inquiries in local hospitals, either in maternity services, where congenital malformations were recorded, or in pediatric services, consisting of hospitalized children or children seen in general or specialized consultation. The results demonstrated that consanguinity is very frequent (22 to 25%) predominantly "first cousin marriages". It has adverse consequences on infant mortality, with unexpected polymalformations or neural tube malformations, hematologic diseases, juvenile diabetes and recessively inherited diseases (neurological diseases were not studied here). The social causes of such a high incidence of consanguinity in Algeria are discussed. Measures to put into action in order to rapidly change the customs of the country are suggested.

Adolescent↗

PubMed1984

Consanguineous marriage among rural Arabs in Israel.

The prevalence of consanguineous marriages was examined among the Arab rural population in the Western Galilee region in Israel. The survey was conducted by questioning women attending Mother and Child Health Centers, or those met on the main street of the village. The overall figures were unusually high (39%), including those for first and second cousins. They were highest in the Druze population (49%), lower in the Moslems (40%) and still lower in the Christians (29%) (P less than 0.001). The most common type was first-cousin marriages, especially where the husband's father and the wife's father were brothers. The prevalence of consanguineous marriages was higher in the younger generation whose members had remained in their family village. These findings indicate that the traditional way of life, with its close family relationships, is still most common in the Arab rural society in Israel. The high prevalence of consanguinity is an unfavorable factor in this population's health condition. It is believed that the present educational and occupational changes will gradually alter this custom.

Consanguinity↗

PubMed1996

[Analysis of consanguinity in some populations of the V Region, Valparaiso, Chile, from 1880 to 1969].

The population structure of 10 populations ("comunas") in Valparaíso, V Region Chile, was studied through the frequency of consanguineous marriages (%CM) and the coefficient of consanguinity (alpha), in order to know their dynamics, and gather information for clinical and genetic epidemiological studies as well as for isonymy studies. The comunas were grouped according to density: Group I, high density, more than 100 inhabitants/km2; Group II, intermediate, between 25 and 99 inhabitants/km2; and Group III, low, less than 25 inhabitants/km2. Data were obtained from parochial archives and national census, from 1880 to 1969. CM's were divided in: uncle-aunt/nephew-niece (12), first cousins (22), first cousins one removed (23), second cousins (33) and multiple consanguinity (M), and the four subtypes of 12 and 22. Percentage of CM and alpha diminish in time. Groups I and II show similar values, but lower in I, and show a constant decrease. Group III has higher values and considerable fluactuations. Types 12 and 22 contribute mostly to %CM and alpha in the 3 groups. Subtypes of 12 and 22 do not occur at random. This temporary and spatial behavior can be explained because of sociocultural and socioeconomical factors in each group, being density an indicator of endogamy. This behavior is consistent with current coefficients of endogamy obtained by isonymy.

Chile↗

PubMed2002

The influence of consanguineous marriage on infant and child mortality among Palestinians in the West Bank and Gaza, Jordan, Lebanon and Syria.

OBJECTIVES: The purpose of this paper is to explore the characteristics of mortality differences associated with consanguineous marriage among Palestinians in the Middle East. METHODS: The data came from five surveys of Palestinians living in the West Bank and Gaza, Syria, Jordan and Lebanon, conducted during the period 1995-2000. Infant and child mortality was estimated for the offspring of consanguineous and non-consanguineous parents using the synthetic cohort method. RESULTS: The data showed an increase in infant mortality of 15.0 additional deaths per 1,000 births among the offspring of first cousins, and a corresponding increase of 6.1 deaths per 1,000 for the progeny of parents from the same patrilineal clan. CONCLUSION: In populations where marriage within kin groups is common, both first cousin marriage and intra-group marriage carries an added risk of infant and child mortality.

Journal Article↗

PubMed1985

The influence of consanguinity on fertility and infant mortality in Sanabria (Zamora, Spain).

"The effects of consanguinity on fertility and infant mortality are studied in the population of the Sanabria Valley (Zamora province, Spain). The sample is made up of 965 complete families, 100 couples being first cousins (FC), 172 second cousins (SC) and 693 non-related (NR). There appears little difference in the fertility of consanguineous and unrelated couples but infant mortality rates (endogenous and exogenous) are higher among the offspring of consanguineous couples."

Biology↗

PubMed2026

Prenatal diagnosis of glucose-6-phosphatase catalytic subunit 3 deficiency (Dursun syndrome) using whole-exome sequencing: A case report of severe fetal cardiomyopathy in a consanguineous family.

Glucose-6-phosphatase catalytic subunit 3 deficiency, also known as Dursun syndrome, is a rare autosomal recessive disorder characterized by severe congenital neutropenia and variable multisystem malformations, particularly affecting the cardiovascular system. Most reported cases have been identified postnatally, following infectious or hematologic complications. Prenatal identification remains exceptionally rare. We describe the case of a fetus from consanguineous parents with a history of multiple neonatal deaths. Serial prenatal imaging demonstrated progressive fetal growth restriction, cardiomegaly with biventricular hypertrophy, significant tricuspid regurgitation, right-sided cardiac dominance, right atrial enlargement, ventriculomegaly, and evolving craniofacial dysmorphism. Whole-exome sequencing revealed a homozygous nonsense variant in G6PC3 (NM_138387.3:c.481C > T; p.(Arg161Ter)), confirming that both parents were heterozygous carriers. Postnatally, the neonate developed severe neutropenia, complex right-sided cardiac outflow obstruction physiology, and refractory cardiorespiratory failure, leading to death on day 4 of life. This report expands the prenatal phenotypic spectrum of glucose-6-phosphatase catalytic subunit 3 deficiency and emphasizes the importance of considering this diagnosis in fetuses presenting with cardiomyopathy, dysmorphic features, fetal growth restriction, and parental consanguinity. Early molecular diagnosis enables accurate counseling, informed reproductive planning, and consideration of preconception or early prenatal genomic testing in high-risk families.

Humans↗

PubMedDate not supplied

Consanguinity and early mortality in the Muslim populations of India and Pakistan.

Empirical information from studies conducted in Pakistan has indicated a high level of offspring mortality that can be attributed to parental consanguinity even when non-biological variables are controlled. However, with the exception of some small and geographically restricted studies, few comparable data are available on the influence of inbreeding in child survival among the Muslim population of India, which numbers between 100 and 120 million. The present study compares deaths during the first 5 years of life among the offspring of first cousin (F = 0.0625) and non-consanguineous unions (F = 0), using data collected in the 1992-1993 Indian National Family Health Survey (NFHS) and the 1990-1991 Pakistan Demographic and Health Survey (PDHS). The focus was on determinants of mortality in live-born children to age 5 years. In both countries, bivariate analyses indicated that mortality was significantly increased in the offspring of first cousin unions during the neonatal and post-neonatal, total infant, and under-5 year periods. The findings were confirmed by multivariate regression, which incorporated control for a range of biological and demographic factors.

Case-Control Studies↗

PubMed1982

Theory of genetic counseling for rare recessive traits with consanguinity.

The theory of assessing genetic risk for rare autosomal recessive traits in the face of extensive consanguinity is explored. A general lemma is proved that justifies the partition of posterior probability and recursive incorporation of it, as a means of reducing the logic of analysis to steps of manageable complexity: the conditions are that either the components should be independent or that each component, as it is added, is conditioned on the occurrence of all earlier components. An example is given of a pedigree in which the tracing of a gene by the method of expected proportions is misleading, and another that points up the importance of the posterior information. Four classes of patterns are identified and appropriate methods devised for handling them: the single consanguineous loop, multiple mutually-external loops, nested loops, and multiple closures. The latter problem may be treated in general by the use of truncated generating functions, with or without the use of matrix methods.

Bayes Theorem↗

PubMed1994

Parental consanguinity in two sibs with omodysplasia.

Two sibs with omodysplasia were born to phenotypically normal but consanguineous parents. They had severe micromelic dwarfism, facial anomalies, and mental retardation. One had a congenital heart defect. The radiographic findings are typical: hypoplastic distal end of the humerus with radioulnar diastasis. Parental consanguinity and clinical manifestations in 2 sibs suggest autosomal recessive inheritance.

Adult↗

PubMed2005

Spectrum of malformations of the hindbrain (cerebellum, pons, and medulla) in a cohort of children with high rate of parental consanguinity.

We review 25 patients with a spectrum of hindbrain (cerebellum, pons, and medulla) malformations from a cohort of children with high parental consanguinity rate. Twenty-three of the 25 patients were born to consanguineous parents. The patients were classified in four groups. Eleven patients of 6 families had malformation of the hindbrain and midbrain with molar tooth sign (10 patients of 5 families with typical Joubert syndrome), 5 patients showed severe supratentorial anomalies in addition to the hindbrain malformations, 5 patients had pontocerebellar or cerebellar hypoplasia with anterior horn cell disease in the spinal cord (spinal muscular atrophy), and 4 patients showed malformations affecting predominantly the hindbrain without substantial involvement of other systems. A locus for Joubert syndrome was previously identified on chromosome 9q34.3 in two families, and a second locus on chromosome 11p12-q13.3 in another family. A third Joubert syndrome locus has been mapped at 6q23 and a mutation in the AHI1 gene at this site has been found recently in a further family from this cohort. Delineation of homogeneous subgroups of patients with hindbrain malformations and molecular genetic analysis of these groups may lead to identification of further loci, genes and mutations responsible for the malformations.

Adolescent↗

PubMed2006

Consanguineous marriage and congenital heart defects: a case-control study in the neonatal period.

The independent effect of consanguinity on the prevalence of congenital heart defects (CHDs), all and specific types, was investigated in newborns admitted to nine hospitals located in Beirut, Lebanon and members of the National Collaborative Perinatal Neonatal Network (NCPNN). Cases were 173 newborns admitted to the Neonatal Intensive Care Units (NICU) of participating hospitals during the 3-year period from January 1, 2000 to December 31, 2002 and diagnosed during their hospital stay as having one or more CHD. Cases with chromosomal abnormalities were excluded. Cases with more than one CHD were assigned one principal malformation. Controls consisted of a random sample of 865 newborns without a CHD admitted to the NICU during the same period. After controlling for confounders, first cousin consanguinity remained significantly associated with an increased risk of CHD: infants born to first cousin marriages had a 1.8 times higher risk of having a CHD diagnosed at birth compared to those born to unrelated parents (95% CI: 1.1-3.1). In particular, first-cousin marriage was a significant risk factor for ventricular septal defect (VSD), atrial septal defect (ASD), hypoplastic left heart (HLH), and single ventricle (SV). No association was found with d-transposition of the great arteries, coarctation, pulmonary atresia (PA), atrioventricular septal defect (AVSD), and tetralogy of Fallot (TOF). The results of this study suggest a familial factor in the multifactorial etiology of CHDs. Additional epidemiologic and family-based genetic studies are needed to understand the complex cause of CHDs.

Adult↗

PubMed1988

An expected decrease in the incidence of autosomal recessive disease due to decreasing consanguineous marriages.

A recent decline in consanguineous marriages in Japan should have resulted in a decrease in the incidence of autosomal recessive disorders. Theoretical estimates were made of the chronological decrease in the incidence using a formula for Hardy-Weinberg expectation in a partially inbred population and applying appropriate consanguinity rates, taken from the literature, during the period from 1942 to 1983. Theoretically estimated also, using Nei's extended Dahlberg's formula, is a chronological decrease in the proportion of first-cousin marriages among the parents of affected individuals. The estimated decrease in both indices during the period was substantial, and greater in disorders of low gene frequencies. The incidence of major autosomal recessive disorders was estimated to have decreased by 40 to 80% during the period. The proportion of first-cousin marriages among the parents of affected individuals dropped from 40-70% in 1945 to 5-15% in 1983. Theoretical estimates of the magnitude of the decrease in the incidence and in the proportion of first-cousin marriages among the parents agreed fairly well with those of observed figures in phenylketonuria and Wilson's disease.

Consanguinity↗

PubMed2006

Prenatal diagnosis of primary microcephaly in two consanguineous families by confrontation of morphometry with DNA data.

BACKGROUND: Prenatal diagnosis of autosomal recessive primary microcephaly (MCPH) is hampered by the fact that fetal head size is normal until late in the pregnancy, and by the vast genetic heterogeneity and impractically large size of the currently known genes for the disorder. OBJECTIVE: Combine DNA and morphometric approaches into earlier prenatal diagnosis of MCPH. METHODS: We evaluated two consanguineous families affected with MCPH with an ongoing, second-trimester pregnancy. Fetal heads were evaluated by serial ultrasound scannings, and DNA was sampled from parents, probands, and fetal cells, for a focused mutation search and linkage analysis. RESULTS: DNA linkage analysis and fetal head morphometry were concordant in one family and probably concordant in the second, showing a healthy fetus and an affected fetus, respectively. CONCLUSIONS: Cautious confrontation of linkage and morphometric data in selected cases of MCPH from consanguineous families may decrease false-positive and false-negative errors of second-trimester prenatal diagnosis.

Adult↗

PubMed1991

Consanguinity sans reproche.

In a family with two cystic fibrosis (CF) patients and consanguineous parents, DNA analysis showed that the CF in the children was not caused by homozygosity by descent, since two different mutations were involved. A formula is given for calculating the probability that parental consanguinity, if it exists, is causally related to the existence of an autosomal recessive disease in affected children.

Alleles↗

PubMed1996

Outcome of assisted reproduction technology in infertile couples of consanguineous marriage.

PURPOSE: The outcome of pregnancies resulting from assisted reproduction technology does not seem to differ from the outcome of those arising from spontaneous natural conception. METHODS: There is increased risk of chromosomal abnormality in spontaneous natural pregnancies resulting from consanguineous marriage, with consequent higher rates of miscarriage, stillbirth, and congenital abnormalities. RESULTS: This study has shown a trend of an increased miscarriage rate (but not statistically significant) in pregnancies achieved in infertile couples of consanguineous marriages by assisted reproductive technology. CONCLUSIONS: Selecting embryos for transfer on the basis of their morphology does not appear to reduce the risk of chromosomal abnormality in these couples.

Abortion, Spontaneous↗