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PubMed1998

Clinical patterns of neuronal migrational disorders and parental consanguinity.

The role of inheritance in neuronal migrational disorders is under intense investigation. Studies on neuronal migrational disorders (NMDs) from developing countries that have a high rate of parental consanguinity are lacking. The present study included 29 children (aged 15 days-12 years, mean age 1.4 years) who were diagnosed to have NMDs, from a non-selected population with seizures and non-selected population of cognitive developmental delay, in the period January 1994 to April 1997. Seventeen (58.6 per cent) patients had lissencephaly, four (13.8 per cent) patients had pachygyria, three (10.3 per cent) patients had neuronal heterotopia, four (13.8 per cent) patients had schizencephaly, one patient (3.4 per cent) had hemimegalencephaly, and 14 (48.2 per cent) patients with NMDs had other associated conditions. Lissencephalic patients had a high rate of parental consanguinity (88.2 per cent) and family history of possible similar cases (76.4 per cent). In conclusion, lissencephaly is probably the commonest neuronal migrational disorder in communities with a high rate of parental consanguinity, adding significant support to the literature on the genetic aetiology of lissencephaly.

Cell Movement↗

PubMed2026

Disruption of GAD1 protein architecture by a novel missense variant in a consanguineous family with autosomal recessive intellectual disability.

BACKGROUND: Intellectual disability represents a heterogeneous group of neurodevelopmental disorders marked by significant impairments in intellectual functioning and adaptive behavior. Among the various causes, genetic factors play a major role, with autosomal recessive intellectual disability (ARID) constituting a genetically diverse subgroup. ARID is prevalent in consanguineous families and arises from homozygous mutations that disrupt critical genes involved in brain development and function. OBJECTIVE: This study aimed to identify disease-causing genetic variants responsible for ARID in a consanguineous Pakistani family and to evaluate the structural and functional impact of a novel variant identified in GAD1 through protein modeling. METHODS: A consanguineous family affected with intellectual disability was enrolled. Whole-exome sequencing was performed on an affected individual, followed by bioinformatics analysis including alignment to the GRCh38 reference genome, variant calling, and annotation. Variants were filtered based on rarity, predicted functional impact, and autosomal recessive inheritance pattern. Candidate variants were validated and assessed by Sanger sequencing and segregation analysis. Protein modeling was performed to evaluate the structural impact of the identified variant. RESULTS: A novel homozygous missense variant NM_000817:c.1700G>A;p.Arg567Gln in GAD1 was identified. Segregation analysis confirmed co-segregation of the variant with the affected phenotype. Protein modeling suggested that the variant may disrupt GAD1 enzymatic function involved in gamma-aminobutyric acid synthesis. CONCLUSION: This study emphasizes the significance of genetic investigation in familial cases and the crucial role that GAD1 mutations play in neurodevelopmental disorders with intellectual disability. The results advance the knowledge of molecular causes of ARID and broaden the mutational range.

Pakistani↗

PubMed1986

The effect of consanguineous marriages on reproductive wastage.

A stratified representative sample size of 5,007 Kuwaiti females aged 15 years and above was drawn during 1983 and structurally interviewed to study the influence of consanguineous marriages (up to the second cousin) on reproductive wastage. Losses comprised prenatal deaths (abortions and stillbirths) and neonatal deaths (up to the first month of life). The rate of consanguineous mating in the sample was 54.3% with 95% confidence limits estimated rate 52.9% to 55.7% when projected over the whole Kuwaiti population. First cousin marriages accounted for 30.2% of the sample followed by 22.1% less than first cousin (first cousin once removed and second cousins) and 2% only double first cousin. The study showed higher prenatal and neonatal losses among consanguineous (14.2%, 2.97%) than nonconsanguineous (13.97%, 2.54%) although not statistically significant. No consistent increase in reproductive wastage was evident as the inbreeding coefficient, F, advances mainly because of decline in the wastage rate among the double first cousin marriages which represents only 2% of our sample.

Abortion, Spontaneous↗

PubMed1994

Effects of consanguinity on anthropometric measurements of newborn infants.

The effects of parental consanguinity on gestational age and birth measurements were evaluated on 2880 newborn infants. Consanguineous marriages were considered in three subgroups: first-cousin, first-cousin-once-removed and distant-cousin marriages, versus non-consanguineous marriages. Anthropometric parameters were weight, length, leg length, head, chest and mid-arm values obtained within 24 h of birth. No significant differences were found concerning gestational age. Although anthropometric values were slightly less, especially in children from first-cousin couples, the differences were insignificant for all groups. It was concluded that blood-relationship alone does not affect such multifactorial traits.

Anthropometry↗

PubMed1997

Consanguineous marriage and its clinical consequences in migrants to Australia.

Marriage between close biological relatives is strongly favoured in many countries in Asia and Africa. Although substantial numbers of migrants from these regions are now living in Australia, little information is available either on the prevalence of consanguineous unions among migrants or on their clinical outcome. Data are presented on a range of generally rare autosomal recessive genetic disorders diagnosed in the children of parents of Eastern Mediterranean origin who attended Westmead Hospital, Sydney for genetic counselling during the period 1990 to 1994. The effects of parental consanguinity are assessed both in terms of the specific recessive disorders detected, and the perceived role of consanguineous marriage in the communities investigated.

Australia↗

PubMed1983

Consanguineous matings in the Egyptian population.

A total of 26 554 Egyptians was ascertained to study the incidence of consanguineous marriages. They were of different ages, different socioeconomic standards, and from different areas. There were 7646 from urban areas, 11 280 from suburban areas, and 7628 from rural areas. The incidence of consanguineous matings in the general population was found to be 28.96% with an average inbreeding coefficient of 0.010, which could be considered high. The highest incidence was that in the rural areas. First cousin marriages occurred more often than the other types of consanguinity.

Consanguinity↗

PubMed1989

Consanguinity related prenatal and postnatal mortality of the populations of seven Pakistani Punjab cities.

A retrospective study was conducted on prenatal and postnatal mortality among the populations of seven cities in the Pakistani province of Punjab. Consanguineous marriages were strongly favoured and the coefficients of inbreeding (F) for the present generation in each locality ranged from 0.0236 to 0.0286. There was a highly significant relationship between the degree of inbreeding and mortality, with most consanguinity related deaths reported in the neonatal, infantile, and childhood periods. The findings strongly suggest that consanguinity may play a major role in the high rates of postnatal mortality observed in Pakistani communities now resident in the United Kingdom.

Abortion, Spontaneous↗

PubMed2000

Spina bifida in Saudi Arabia: is consanguinity among the parents a risk factor?

INTRODUCTION: Spina bifida is an important birth defect. Its incidence differs from one country to another due to different factors. The aims of this study were: (1) to estimate the incidence of spina bifida in Al-Madinah Al-Munawarah and compare it with the Eastern part of the Kingdom, and (2) to find out if consanguinity is a risk factor. METHODOLOGY: A prospective study was conducted over the period from April 1996 to March 1997 in the city of Al-Madinah Al-Munawarah, Western Province, Saudi Arabia. New cases of spina bifida were studied and compared to a control group of 72 cases. RESULTS: During the study period, 18 cases of spina bifida were detected. The incidence was 1.09 per 1,000 live births. The male to female ratio was 2:1; however, this was not statistically significant. Consanguinity of the parents was found in 89% of the spina bifida parents and only 67% of the controls (p < 0.0005). CONCLUSION: (1) The incidence of spina bifida in the city of Al-Madinah Al-Munawarah was similar to that reported from the Eastern Province of Saudi Arabia. (2) The consanguinity of the parents was a significant risk factor.

Adolescent↗

PubMed1978

Effects of parental consanguinity on fertility, mortality and morbidity among the Pattusalis of Tirupati, South Indian.

The incidence of consanguineous marriages is very high in the Pattusali population. First cousin marriages are preferred mostly. The consanguinity effects obtained in this population are also mostly confined to these marriages only. The inbreeding coefficient for the population is 0.02997. The consanguinity on fertility, mortality and morbidity are discussed in the paper.

Birth Rate↗

PubMed2001

Consanguineous marriage among the Fulani.

The Fulani are a broad ethnic category of nomadic and seminomadic pastoralists and agropastoralists living in the semiarid Sahel region of sub-Saharan Africa. The Fulani are patrilineal, patrilocal, and moderately polygynous, with arranged first marriages accompanied by the payment of bridewealth, ideally in the form of cattle. Consanguineous marriage is frequent, with first or second cousin marriage preferred. In this paper we present data on levels of consanguineous marriage among the Fulani of northern Burkina Faso and test the hypothesis that inbreeding may be more frequent when there is a scarcity of cattle available, since bridewealth demands are thought to be reduced with close-kin marriage. Among 308 women's marriages, 203 (65.8%) were between kin up to and including second cousins, and 102 (33.1%) were between nonkin. Among 276 men's marriages, 196 (71.0%) were between kin up to and including second cousins, and 77 (27.9%) were between nonkin. The mean population inbreeding coefficient (alpha) was 0.0355 for women, and 0.0374 for men. No increase was found in population levels of inbreeding estimated from marriages contracted after the droughts of 1973 and 1984, which drastically reduced the Fulani's cattle stocks. However, a significantly higher rate of consanguineous marriage was found in families owning the fewest cattle.

Animal Husbandry↗

PubMed2002

Consanguinity in Spain: socioeconomic, demographic, and geographic influences.

Information on consanguinity in Spain was reanalyzed in order to obtain a more complete picture of consanguinity patterns by considering temporal, geographical, demographic, and economic factors. To obtain data on consanguineous marriages, we reviewed 106 published references. Only populations with homogeneous geographical characteristics, economic activities, transportation facilities, and the like, were considered. Two-way analysis of variance (ANOVA) provided highly significant differences (p < 0.001) for a both for time periods and for urban versus rural patterns, but there was no interaction between the latter two. A regression analysis shows that for rural areas the geographic characteristics, economy, communications, and index of demographic tendency were significant predictors of the inbreeding coefficient. The results obtained indicate that urban and rural patterns differ significantly and that the temporal factor needs to be taken into account before comparing inbreeding coefficients. In urban areas the census size and altitude are included in the regression equation as significant variables, but association was not found between alpha and the index of demographic tendency (population increase or decrease). Instead, the absolute number of inhabitants (census size) was significant. In rural areas geographic characteristics, communications, and index of demographic tendency were significant predictors of the inbreeding coefficient.

Analysis of Variance↗

PubMed2004

A high prevalence of consanguineous and severe congenital hypothyroidism in an Iranian population.

To determine the incidence of permanent congenital hypothyroidism (CH) in Tehran and Damavand, cord blood spots were collected from February 1998-August 2002 and infants with TSH > or =20 mU/l were recalled. CH was confirmed in neonates (aged > or =7 days) with serum TSH >10 mU/l and T4 <84 nmol/l. Cases were followed up until September 2003. Dysgenesis was detected by thyroid imaging. In eutopic cases, serum TSH and T4 measurements following levothyroxine discontinuation (2-3 years of age) confirmed dyshormonogenesis and transient CH. Of 35,067 neonates, 373 (1.06%) were recalled and 25 (1:1,403 births) had permanent CH (six had transient CH and four remain unknown). Dysgenesis was detected in 18 (1:1,948 births) and dyshormonogenesis in seven (1:5,010 births) infants. Parental consanguinity was present in 10 (55.6%) dysgenetic, three (42.9%) dyshormonogenetic, and overall 6,648 (28.6%) of 23,227 screened infants. Odds ratio (95%CI(OR)) of consanguinity in permanent CH and dysgenesis was 2.75 (1.17-6.47) and 3.74 (1.33-10.52), respectively. The high prevalence of parental consanguinity in infants with permanent CH warrants genetic assessment.

Analysis of Variance↗

PubMed1989

Consanguinity among parents of hearing-impaired children in relation to ethnic groups in the Jewish population of Jerusalem.

A longitudinal study was performed on Jewish children with moderately-severe to profound hearing impairment born in Jerusalem during a period of 15 years (1967-1982), and the data on consanguineous matings among their parents were analyzed. These data were estimated in relation to the records obtained in an earlier survey performed on Jewish deaf children during the years 1955-1964. The rate of consanguinity among the parents of hearing-impaired children was much lower in the present survey than in the earlier one in both the Ashkenazi (Central and Eastern European origin) and the non-Ashkenazi (Asian-African origin) group. It is assumed that there is a better understanding of the genetic risk in consanguineous unions, especially when a disability such as hereditary deafness is involved.

Consanguinity↗

PubMed2004

Meckel Gruber syndrome: occurrence in non-consanguineous marriages.

Meckel Gruber syndrome is an uncommon, lethal, autosomal recessive disorder, associated consistently with polycystic kidneys, posterior encephalocoele and polydactly. We report three cases in non-consanguineous marriages, suggesting that the single gene defect occurs more commonly in non-consanguineous marriages than mutant genes associated with other autosomal recessive disorders that are usually related with consanguineous marriages. The usefulness of prenatal diagnosis is discussed.

Abnormalities, Multiple↗

PubMed2000

[Population genetics of Chinese surnames. II. Inheritance stability of surnames and regional consanguinity of population].

This paper analyzes and compares the distributional curves and isonymy of surnames and the consanguinity of regional population in the Song and Ming dynasties and the 2 present. The distribution of surnames in the three periods reveals two significant phenomena: (1) The historical inheritance of Chinese surnames is continuous and stable. This explains why the consanguineous culture relics represented by surnames and the evolution of life substances especially Y chromosome has basically the same pattern. (2) Two types of surnames, common and rare, can be identified in China. The 100 common surnames, less than 5% of the total number of Chinese surnames, are connected with more than 85% of the population, while the rare surnames, more than 95% of the total number of surnames, are related to only about 15% of the population. The distribution of common surnames acts as the major factor reflecting the genetic composition in different regions, and it determines the historical population migration and the degree of consanguinity between regional populations. The rare surnames are of regional characteristic and relative isolation. As a result, it is possible that the study of Chinese surnames and of the distribution pattern of population with the same surname serves as an important approaches to Chinese paternal genetics and Y chromosome evolution. This may provide valuable clue for the study of population highly subject to genetic diseases.

Biological Evolution↗

PubMed2002

[Causes of mental retardation in children of immigrant background. A registry study of the occurrence of consanguinity among parents of mentally retarded children at the Center for Handicapped, Glostrup hospital, county of Copenhagen].

INTRODUCTION: In the County of Copenhagen the treatment of mentally retarded (MR) children is centralised in the Center for Handicapped (CFH). The aim of this study was to elucidate whether the frequency of MR is higher in children from ethnic minorities than in the background population and whether an increase could be ascribed to inbreeding. MATERIAL AND METHODS: The medical records of children with a non-Danish family name and where both parents were from countries other than Denmark were studied. RESULTS: A significant increase in the frequency of MR were found in the children from ethnic minorities: 16.6% of the children seen at CFH had an ethnic background compared to 14% in the background population, making a surplus of 18.5% more than expected. When a family was inbred other family members had Mr in 43.0%, whereas more family members with MR were found in only 14.2% of the families with no inbreeding. In the consanguineous families we found possible aetiological diagnoses in 21.5% of the children compared to 49% in the non-consanguineous families. In the entire group of children from ethnic minorities, we found Down's syndrome in 3.2% compared to 10.7% in Danish children with MR. DISCUSSION: There is a surplus of MR in children from ethnic minorities in the County of Copenhagen. The causes are not known, nor are aetiological factors for MR for a great part of the children. Consanguinity is likely to be a risk factor for MR, especially if it is already present in the family. This conforms with previously published data from other countries.

Adolescent↗

PubMed2003

Spectrum of congenital heart defects associated with Down Syndrome in high consanguineous Omani population.

OBJECTIVE: To identify the pattern of congenital heart defects (CHD) in children with Down Syndrome (DS) in an Omani population, and compare it with CHD in children without DS and with historical cohorts from populations with low prevalence of consanguinity. SETTING: Open-access Paediatric Echocardiography Clinic at Sultan Qaboos University Hospital, Muscat, Oman. DESIGN: Prospective study. METHODS: All children with DS referred to the Clinic from 1995-1998 formed the subjects (Group I). Children without DS or other known associations of CHD seen at the clinic during the same period served as controls (Group II). Two-dimensional echo-Doppler studies were performed on both groups and the results compared. RESULTS: CHD were detected in 54/90 (60%) children in Group I, compared to 698/2122 (32.9%) in Group II (P<0.001). The common CHD in Group I included secundum atrial septal defect (ASD; 18/54), atrioventricular septal defect (AVSD; 15/54) and ventricular septal defect (VSD; 14/54), and in Group II included ASD (175/698), VSD (175/698), patent ductus arteriosus (123/698), pulmonary stenosis (PS; 76/698) and AVSD (35/698). AVSD was more common (P <0.001) and PS less common (P = 0.03) in Group I. Aortic stenosis, coarctation of aorta, transposition of great arteries and complex heart diseases were not detected. Compared to several studies from populations with low prevalence of consanguineous marriages, our study showed a higher frequency of CHD in DS (P <0.05). CONCLUSION: A high frequency of CHD was documented in DS-children from a population with widely prevalent consanguinity. AVSD was most frequent in DS. An interesting observation was the relative rarity of some CHD in the DS population studied.

Child↗

PubMed2005

[Endogamy and consanguinity in Mauritania].

We examined the types of marriage between husband and wife and their frequency as well as the intensity of consanguinity for the Mauritanian ethnic groups. Then we evaluated for all the population, the variations of each of these dimensions according to the dates of marriage. The analisys of a sample of 2413 couples obtained according to the quota method showed that the Mauritanian population presents a strong family endogamy of about 47.20%. The Wolofs and the Poulards present pourcentages of marriages between blood relations of about 74.47% and of 55.74% respectively. On the other hand, for the Maures, black Maures and Soninkes, the proportions of marriages between blood relations are of the order of 41.25%, 30.52% and 46.99% respectively. This same analysis has also shown that the Mauritanian ethnic groupes present high apparent coefficient of consanguinity. They are of a level of unions between unequal cousins (1 /32) for (1/64) for others. The evaluation of endogamy practices in function of marriage dates (from 1921 to 1991) shows and for all the population a decline tendency in the pourcentages of consanguine marriages, and at the level of a whole Mauritanian population.

Consanguinity↗