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PubMed1994

Consanguineous marriage in Turkey and its impact on fertility and mortality.

Turkey has a high rate of consanguineous marriage (21.1%), indicating strong preference for this traditional form of marital union. Social and cultural factors are especially important in marriages between first and second cousins. Fertility is high, the closed birth interval is long, and the sterility rate is low among these couples. Post-neonatal, infant and under-5 mortalities are high in first cousin unions by comparison with non-consanguineous marriages. According to the results of the study, first cousin marriage is a significant determinant underlying the high total fertility and infant mortality rates in Turkey.

Adolescent↗
PubMed1987

Consanguinity and fetal growth in Pakistani Moslems.

There is conflicting evidence about the effect of parental consanguinity on fetal growth. Previous studies have not always allowed for other factors that are known to affect birth weight, in particular, gestational age, parity, and maternal height. We have therefore studied this question in the Pakistani Moslem population in Birmingham. Babies born to parents who were first cousins were on average 80 g lighter than those born to unrelated parents, but this difference was not significant for the size of the sample studied. Nor were there any differences in the other measurements of the babies. After expressing birth weight in terms of centiles for gestational age, sex, parity, and maternal height, however, while there was no difference in the overall distribution of centiles, there were more poorly grown babies--that is, weight below the 10th centile--in the first cousin group. We conclude that parental consanguinity is associated with an increase in the number of poorly grown babies but that the overall effect on mean birth weight is small.

Age Factors↗
PubMed1997

Tuberous sclerosis complex: neonatal deaths in three of four children of consanguineous, non-expressing parents.

We describe here four sibs, born to consanguineous, healthy, asymptomatic parents. Three of these infants had a rapidly fatal course in the neonatal period; death was attributed to congestive heart failure with radiographic evidence of cardiomegaly in all of them. Necropsy was done in only one of them and showed the typical findings of tuberous sclerosis complex (TSC) in the central nervous system (CNS), kidneys, heart, and liver. The fourth sib, currently 2 years old, also has typical signs of TSC, namely hypomelanotic skin macules and calcified subependymal nodules. Both parents and a living maternal grandmother had appropriate examination, which included skin inspection under Wood's lamp, dental examination, fundoscopy, echocardiography, abdominal and renal ultrasound, and head CT and MRI scans, and no signs of TSC were found in either parent or in the only living grandmother. By history alone there is no other relative with signs or symptoms suggestive of TSC. Linkage analysis and loss of heterozygosity (LOH) investigations on a variety of lesions obtained from postmortem and tissue or blood specimens from all available family members studied failed to identify a microdeletion in the chromosomal regions where TSC genes are located. It is very unusual that in a single TSC family there were three consecutive neonatal deaths, and very likely that all had cardiac rhabdomyomas. Moreover, to the best of our knowledge, there are no previous reports of TSC families with more than one affected sib, unusually severe manifestations of the disease, and completely normal, consanguineous parents.

Child, Preschool↗
PubMed2007

Consanguineous marriages in Iranian folktales.

BACKGROUND: Using folktales we can find some aspects of social customs. Here, I show the situation of consanguineous marriages in folktales from different Iranian populations and try to compare it with the present situation of consanguineous marriages. METHODS: The study includes tales from 11 different Iranian (ethnic and/or geographical) populations. Overall, the records of 585 marriages in 296 folktales from the study populations were found. RESULTS: The estimated mean inbreeding coefficient (alpha) for different populations using folktale records is lower than that of the present values. However, there is a very high level of statistically significant correlation between them (r = 0.753, d.f. = 9, p = 0.007). CONCLUSION: The historical background is very important to attitude and practice regarding marriages between relatives.

Consanguinity↗
PubMed1980

A note on the frequency of consanguineous marriages in Reading, England in 1972/1973.

A random sample was taken of marriages celebrated in 1972/1973 in and around Reading, Berksshire, in order to investigate marital mobility and population structure. Respondents were asked whether they were related before marriage and isonymous marriages were noted. Eight consanguineous marriages were recorded. The inbreeding coefficient for the next generation is estimated to be 0.00017 from consanguineous marriages, 0.00021 from isonymy. These values are similar to those obtained from other modern Western societies.

Consanguinity↗
PubMed1989

Consanguinity and reproductive health in Iraq.

This study investigated the consanguinity rate of 233 families with severely disturbed reproductive health, and compared it to that of 227 families with normal (moderate) levels of reproductive wastage and to that of 155 families with no reproductive disturbance. The results showed that the inbreeding coefficients of the three groups of families were 0.0358, 0.0241 and 0.0208, respectively. Furthermore, the rate of congenital malformations was found to be highly correlated with the consanguinity rate of these families.

Abortion, Spontaneous↗
PubMed2004

Genome-wide linkage in a large Dutch consanguineous family maps a locus for intracranial aneurysms to chromosome 2p13.

BACKGROUND AND PURPOSE: Familial occurrence of intracranial aneurysms suggests a genetic factor in the development of these aneurysms. In this study, we present the identification of a susceptibility locus for the development of intracranial aneurysms detected by a genome-wide linkage approach in a large consanguineous pedigree. METHODS: Patients with clinical signs and symptoms of intracranial aneurysms, confirmed by radiological, surgical, or postmortem investigations, were included in the study. Magnetic resonance angiography was used to detect asymptomatic aneurysms in relatives. RESULTS: Seven out of 20 siblings had an intracranial aneurysm. Genome-wide multipoint linkage analysis showed a significant logarithm of the odds score of 3.55. CONCLUSIONS: In a large consanguineous pedigree intracranial aneurysms are linked to chromosome 2p13 in a region between markers D2S2206 and D2S2977.

Chromosome Mapping↗
PubMed2003

Genome-wide linkage screen of a consanguineous multiple sclerosis kinship.

Multiple sclerosis (MS), like Alzheimer's disease (AD) and Parkinson's disease (PD), is a common neurological disorder thought to be caused by the interaction of several genes with unknown environmental factors. In both AD and PD the identification of disease forms inherited in a classic Mendelian fashion has helped investigators elucidate pathogenetic mechanisms. In this study a whole-genome screen, with an average of 608 successful genotypes per person, was performed on nine members of a consanguineous family: the index case, three of her siblings and her daughter, all of whom have been diagnosed with definite MS; as well as the parents of the index case (first cousins), one of her five healthy siblings and her husband (who is also her first cousin). Nonparametric linkage analysis was performed on genotyping data. Based on the presence of consanguinity, the a priori hypothesis was that the disease is transmitted in an autosomal recessive fashion in the pedigree. Linkage analysis revealed a suggestive logarithm of odds (LOD) score of 2.29 on the long arm of chromosome 9. Four of five affected family members were identically homozygous for a haplotype under this peak, spanning approximately 43 cM, while the fifth affected subject and all unaffected family members were heterozygous for the haplotype.

Adolescent↗
PubMed1989

Mild cystic fibrosis in a consanguineous family.

Cystic fibrosis is an autosomal recessive genetic disorder linked to chromosome 7q in all families studied. Expression of the disease varies, but the genetic basis for clinical heterogeneity is unknown. We describe an extended consanguineous family with pulmonary disease and the sweat gland phenotype of cystic fibrosis. In the members of this family, clinical expression of the disease was mild, as manifested by the absence of severe childhood lung disease and increased longevity with better functional status than that expected for age. The degree of pancreatic exocrine insufficiency varied (4/10), but the older patients had normal pancreatic function. The pedigree suggested the likelihood of common ancestry, and eight of the ten affected persons were clearly related. At least three of the family members with the mildest clinical disease had consanguineous parents and may therefore have been homozygous for a variant cystic fibrosis gene. The mild expression of cystic fibrosis in this family provides evidence for a form of cystic fibrosis that is intrinsically less debilitating than the classic form.

Adolescent↗
PubMed1999

Consanguinity and recurrence risk of birth defects: a population-based study.

Recurrence risks give insight into the causes of birth defects and are useful in genetic counseling. There are few population-based studies of recurrence of birth defects for subsequent sibs with consanguineous parents. The aim of this study was to estimate and compare the recurrence risk of birth defects for offspring of first cousins and nonconsanguineous parents. The study population consisted of all single births with a previous sib born in Norway between 1967 and 1995. Altogether 660,398 children had nonconsanguineous parents, and 3,583 had parents who were first cousins. For nonconsanguineous parents the risk of a birth defect for the subsequent sib was 15 per 1,000 births (95% confidence interval: 14.5-15.1) if the previous child did not have a birth defect and 33 (95% confidence interval: 30-37) if the previous child had a birth defect. For parents who were first cousins the risk of a birth defect for the subsequent sib was 36 per 1,000 (95% confidence interval: 30-42) if the previous child did not have a birth defect and 68 (95% confidence interval: 33-122) if the previous child had a birth defect. The risk of recurrence of birth defects is higher for subsequent sibs with first-cousin parents than for those with nonconsanguineous parents. This difference indicates the degree to which the increased homozygosity among offspring of consanguineous parents influences the risk of recurrence of birth defects.

Age Factors↗
PubMed1999

Complex consanguinity associated with short rib-polydactyly syndrome III and congenital infection-like syndrome: a diagnostic problem in dysmorphic syndromes.

Short rib-polydactyly syndromes (SRPS) are a heterogeneous group of recessively inherited lethal skeletal dysplasias. Four types have been recognised. However, overlap in the clinical and radiological features of the four types has led to difficulties in distinguishing between them. The congenital infection-like syndrome is an autosomal recessive syndrome characterised by mental retardation, microcephaly, seizures, and intracranial calcifications. We report a complex consanguineous family of Baluchi origin in whom short rib-polydactyly type III and congenital infection-like syndrome are segregating. Four children inherited SRPS III, one inherited congenital infection-like syndrome, and one inherited both. Although the radiological features in all the children with SRPS in this report were typical of type III, there was overlap in the clinical features with the other types of SRP syndromes. Furthermore, the child who inherited both SRPS III and congenital infection-like syndrome had CNS malformations in addition to periventricular calcification. CNS malformations have been described in SRPS types II and IV but not type III. This report further highlights the overlap between the different types of SRP syndrome. Moreover, it draws attention to the importance of considering the possibility of two recessive syndromes in the same child in complex consanguineous families when features overlap two syndromes.

Abnormalities, Multiple↗
PubMed1999

A consanguineous family with Hirschsprung disease, microcephaly, and mental retardation (Goldberg-Shprintzen syndrome).

Hirschsprung disease, mental retardation, microcephaly, and specific craniofacial dysmorphism were observed in three children from a large, consanguineous, Moroccan family. A fourth child showed similar clinical features, with the exception of Hirschsprung disease. The association of these abnormalities in these children represents the Goldberg-Shprintzen syndrome (OMIM 235730). Mutation scanning of genes potentially involved in Hirschsprung disease, RET, GDNF, EDN3, and EDNRB, showed a sequence variant, Ser305Asn, in exon 4 of the EDNRB gene in the index patient of this family. The Ser305Asn substitution present in two of the four patients and four healthy relatives and absent in one of the remaining two patients illustrates the difficulties in interpreting the presence of mutations in families with Hirschsprung disease. It is unlikely that the EDNRB variant contributes to the phenotype. This consanguineous family might be useful for the identification of a Goldberg-Shprintzen locus.

Amino Acid Substitution↗
PubMedDate not supplied

[Frequency of consanguineous unions in the Tlemcen area (West Algeria)].

In order to describe consanguineous unions and their effects in a sample of the Algerian population, we interviewed 3,983 couples in a hospital and from urban and rural areas near Tlemcen. We observed that unions between cousins represented 34.0% of the marriages. The frequency of unions between relatives was lower in the urban (30.6%) than in the rural areas (40.5%). This difference can be explained by changing custom and family relationships in urban areas, and is evidenced by social and anthropologic factors and the attitude towards consanguineous unions.

Adult↗
PubMed1992

Consanguineous marriages in the province of Trabzon, Turkey.

This study involved 999 married women, aged between 15 and 49, at the twelve health centres in the province of Trabzon in order to determine the ratio of consanguineous marriages, the factors affecting this situation, the ratios of abortion and the mortality of children in the first year. This ratio of consanguineous marriages was found 20 percent. The education levels of the great majority of these were low. The average age was 18. These were most frequently between children of paternal aunts and maternal uncles (39%) and these marriages, the ratio of abortion and children mortality were higher than others (P less than 0.05). Furthermore, it has been established that the kind of marriage has considerably decreased in Trabzon lately, but we believe that this reduction will be higher in the future since the education levels rapidly increase.

Abortion, Spontaneous↗
PubMed2006

Mutations in the gene encoding the alpha-subunit of rod phosphodiesterase in consanguineous Pakistani families.

PURPOSE: To localize and identify the gene and mutations causing autosomal recessive retinitis pigmentosa (RP) in consanguineous Pakistani families. METHODS: Families were ascertained and patients underwent complete ophthalmological examinations. Blood samples were collected and DNA was extracted. A genome-wide scan was performed using 382 polymorphic microsatellite markers on genomic DNA from affected and unaffected family members, and lod scores were calculated. RESULTS: A genome-wide scan of 50 families gave a lod score of 7.4172 with D5S2015 using HOMOG1. RP in all 4 linked families mapped to a 13.85 cM (14.87 Mb) region on chromosome 5q31-33 flanked by D5S2090 and D5S422. This region harbors the PDE6A gene, which is known to cause autosomal recessive RP. Sequencing of PDE6A showed a homozygous single base pair change; c.889C->T, single base pair insertion; c.2218-2219insT, and single base pair substitution in the splice acceptor site; IVS10-2A->G in each of three families. In the fourth family linked to this region, no disease-causing mutation was identified in the PDE6A gene. CONCLUSIONS: These results provide strong evidence that mutations in PDE6A result in recessive RP in three consanguineous Pakistani families. Although a fourth family was linked to markers in the 5q31-33 interval, no mutation was identified in PDE6A.

Asian People↗
PubMed1991

[A focus of multiple sclerosis in Bretagne: HLA markers and evaluation of consanguinity].

In a previous study, we established the overall prevalence of multiple sclerosis at 25 per 100,000 inhabitants in the French province of Brittany and found that the geographical distribution was uneven with four circumscribed high prevalence areas with more than 45 per 100,000. We conducted the present study to try to ascertain whether the existence of such clusters of MS could be explained by genetic factors, using two ways: the major histocompatibility markers and the frequency of intermarriage. Among the four areas of high prevalence, we examined the one with the highest prevalence, exempt from migratory movements over the last 100 years. We compared this studied population to a sample of 1005 healthy unrelated individuals coming from all over Brittany, designated as general Brittany population. A large sampling (about 25%) of the population accepted to take part in the study. Regarding HLA markers, we observed in the high prevalence area an increases percentage of B7, B8, B12, DR4 and a decreased percentage of B5, compared with the Brittany control population. The consanguinity coefficient in the population of high MS prevalence area was steadily much higher than the one in neighbouring areas with a low MS prevalence during a long period from 1896 to 1945. Under the reserve of non-randomized sampling of individuals for HLA marker study, our findings yielded a double argument in favor of genetic factors influencing the presence of clusters of MS cases: the particularities of HLA phenotype pattern and the increased consanguinity coefficient. The particularities of HLA polymorphism observed in the high prevalence area are likely to be the consequence of the intermarriage habits of this population.

Adult↗
PubMed1986

[Genetic study of spinocerebellar hereditary degenerations in Tunisia. Role of consanguinity in their occurrence].

The genetic analysis of 101 genealogical trees of families with spinocerebellar heredo-degeneration enabled the authors to specify the transmission inheritance for each clinical type. Autosomic recessive transmission has been observed for Friedreich's ataxia (68 out of 69 families), Pierre-Marie's heredo-ataxia (15 families) and familial spastic paraplegia (2 families). A dominant mode of transmission has been observed in 13 families affected by familial spastic paraplegia (Strumpell-Lorrain) and in only one family with Friedreich's ataxia (an intermediate or incomplete form). It has also been observed that the consanguinity rate among this group of families is very high compared with that of the general tunisian population (25%). Marriage between cousins occurs in 75% of the cases of Friedreich's ataxia, in 78% of the cases of Pierre-Marie's heredo-ataxia and in only 61% of familial spastic paraplegia of Strumpell-Lorrain. The authors have come to the conclusion that the recessive autosomic transmission of the spino-cerebellar heredo-degenerative diseases are closely related to a high consanguinity rate.

Cerebellar Diseases↗