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PubMed1997

Neonatal respiratory distress in near-term infants--consider surfactant protein B deficiency.

Two infants presenting with respiratory distress in the first 24 h of life are described. Both patients underwent extensive investigation before the diagnosis of surfactant protein B-deficiency was reached. Both children died within 2 months of birth. Parental consanguinity was known to be a feature in the first case, who proved to have a previously unrecognized mutation of the surfactant protein B gene. In the second case, a history of parental consanguinity was not sought from the Caucasian family, but was later volunteered by the parents themselves. Case 2 proved to have the "common" surfactant protein B-deficient genotype. The key to diagnosis is having a high index of suspicion in any term or near-term newborn with severe respiratory distress; parental consanguinity must be excluded. Surfactant protein B-deficiency can be readily diagnosed from bronchoalveolar lavage specimens; a simple, inexpensive procedure which is well tolerated in newborns.

Bronchoalveolar Lavage Fluid↗

PubMed2002

Familial systemic lupus erythematosus: the role of genetic and environmental factors.

OBJECTIVE: To examine the contribution of genetic and environmental factors to disease occurrence in 26 families with two or more members affected with systemic lupus erythematosus (SLE). METHODS: Genetic and environmental factors were examined by HLA-A, B, C/DR typing and by determining the presence of lymphocytotoxic antibodies (LCA) in patients and their consanguineous and non-consanguineous relatives. RESULTS: No association between SLE and HLA-A, B, C antigens was found. There was, however, a significant association with HLA-DR2 in white subjects with SLE. The most striking finding was that HLA sharing was increased among the affected members, suggesting genetic similarities. Seven of 14 sib pairs (50%) who had concordant SLE were HLA identical as opposed to an expected 25%. Another interesting finding was that 15/18 (83%) patients with SLE and 11/22 (50%) consanguineous relatives had LCA, while 1/9 (11%) spouses, and 2/42 (5%) healthy controls had these antibodies. CONCLUSION: Genetic factors have a role in the development and expression of SLE. Environmental factors may trigger the disease in genetically susceptible hosts.

Adolescent↗

PubMed1977

Genetic study of Welsh gypsies.

A South Wales gypsy kindred of Romany origin had a high incidence of phenylketonuria along with other recessively inherited disorders. There was a high degree of consanguinity (F = 0-017) with an excess of non-specific mental subnormality among known consanguineous matings. Phenylketonuria and a number of other recessively inherited disorders have been recorded from other Romany gypsy populations, but it is uncertain whether this results from a generally high gene frequency for the disorders or from consanguinity and other more local factors.

Adult↗

PubMed1995

The profile of major congenital abnormalities in the United Arab Emirates (UAE) population.

The aim of this study was to establish the profile of major congenital malformations in the United Arab Emirates (UAE) population which has a high rate of consanguinity. All births with birth weight above 500 g in the three hospitals in the Al Ain Medical District of UAE were prospectively studied from January 1992 to January 1994. About 98% of the births in the district occur in these three hospitals. Detailed family history and clinical and relevant laboratory investigations were recorded in each case. Necropsy was not permitted. The major malformations were classified as multiple or isolated single system abnormalities as well as genetic or non-genetic disorders. Of the 16,419 births which occurred during the two year period, 173 (10.5/1000 births) had major malformations, 90 (52%) had multiple malformations, and 83 (47.97%) had involvement of a single system. Of the infants with multiple malformations, 43 had recognised syndromes, most of which are autosomal recessive disorders with a high frequency of rare syndromes. Twenty eight (31%) had chromosomal abnormalities. The most common systems involved in infants with isolated single system malformations include gastrointestinal (33), central nervous system (17), and cardiovascular (10). While the consanguinity rate was similar (57% v 54%), the frequency of first cousin marriages was much higher (51% v 30%) in the study group compared with the figures for the general population. The consanguinity rate was highest among the syndrome cases, and related parents were more likely to have infants with multiple malformations than an isolated single system abnormality with a relative risk of 1.69 (95% CL 1.27-2.24). Genetic factors could be implicated in 116 (67%) of the 173 cases of major malformations and 49 (28%) were potentially preventable. The study suggests that genetic disorders account for a significant proportion of congenital malformation in the UAE and, thus, a genetic service should be provided as part of the preventive cae programme.

Abnormalities, Multiple↗

PubMed1993

A five-year prospective study of the health of children in different ethnic groups, with particular reference to the effect of inbreeding.

A 5-year prospective study of 4,934 children of different ethnic groups has demonstrated a 3-fold increase of postneonatal mortality and childhood morbidity in the offspring of consanguineous Pakistani parents. Most of these families contained more than one consanguineous union, resulting in a mean inbreeding coefficient for their children of 0.0686. It is estimated that 60% of the mortality and severe morbidity of this group of children could be eliminated if inbreeding ceased. However consanguinity is much favoured in this minority group, and health education will have to be carefully and sensitively handled.

Bangladesh↗

PubMed1998

Geneticists share the family jewels: how inbreeding has contributed to understanding hereditary skin disease.

BACKGROUND: Offspring resulting from consanguineous marriages have been important in advancing research in genodermatoses. OBJECTIVE: The concepts of consanguinity and inbreeding are reviewed and their contributions to research in hereditary skin diseases explained. METHODS: Examples are given in which inbred individuals with hereditary skin disease have increased our knowledge of skin disease genetics. RESULTS: An enhanced understanding of the genetics of xeroderma pigmentosum, lamellar ichthyosis, and Werner's syndrome, among others, has arisen from the observation of populations and families in which inbreeding has occurred. CONCLUSION: Populations practicing inbreeding and consanguineous marriages in generally outbred populations have provided important observations for determining the inheritance pattern of several genodermatoses and for identifying the responsible genes.

Consanguinity↗

PubMed1987

Cousin marriages and schizophrenia in Saudi Arabia.

The rate and degree of consanguinity in the parents of 143 schizophrenics who satisfied the DSM-III diagnostic criteria, was compared in the same number of controls matched for age, sex and socioeconomic class. A family history of disorders suggestive of schizophrenia in the offspring of consanguineous parents who were schizophrenic, was compared with the incidence of a similar history in the schizophrenic offspring of non-consanguineous parents. There was no statistically significant difference in the former, but there was in the latter. This finding supports the theory of a familial tendency towards schizophrenia and the possibility of recessive or a multigene pattern of inheritance.

Consanguinity↗

PubMed2000

Evidence for autosomal recessive inheritance of infantile dilated cardiomyopathy: studies from the Eastern Province of Saudi Arabia.

Familial dilated cardiomyopathy is being increasingly recognized, but affected individuals <10 y are rarely identified. We describe the natural history of dilated cardiomyopathy and evaluate the mode of inheritance among infants of Arab descent from the Eastern Province of Saudi Arabia. We evaluated 55 consecutive cases of dilated cardiomyopathy in patients <10 y of age seen during a 5-y interval. Echocardiography was the primary diagnostic modality. The 55 cases represented 20% of the offspring of 41 families of Arab descent. In 19 families (46%), parents were first cousins; there was no obvious consanguinity in 22 families (54%). Age at presentation was <30 mo (95%) (range, 1 to 100 mo); males (38%) and females (62%) were affected. Patients died (25 patients, 46%), improved (15 patients, 27%), or recovered (15 patients, 27%). The left ventricular shortening fraction at diagnosis ranged from 5 to 28% and did not differ in those who died, improved, or recovered. Complex segregation analysis of the family data using the mixed model of inheritance showed that a model of recessive inheritance best fits the data. Recessively inherited dilated cardiomyopathy has been infrequently reported, perhaps because it may be difficult to recognize in other patient groups in which consanguineous marriage is uncommon and the number of children per family is small. In the setting of consanguineous marriage, homozygosity mapping should lead to identification of the gene(s) causing dilated cardiomyopathy in the families we studied.

Age of Onset↗

PubMed2004

Heritable anomalies among the inhabitants of regions of normal and high background radiation in Kerala: results of a cohort study, 1988-1994.

In a genetic epidemiological and fertility survey among 70,000 inhabitants in a high-background radiation region (HBRR) and normal radiation region (NRR) in Kerala, India, 985 persons were found to have heritable anomalies. Suggested etiologies for the anomalies were chromosomal and Mendelian, 15 percent; multifactorial, 60 percent; and congenital, 25 percent. There was a statistically significant increase of Down syndrome, autosomal dominant anomalies, and multifactorial diseases and an insignificant increase of autosomal recessive and X-linked recessive anomalies in the HBRR. The total fertility rate was 3.85 per couple; 9 percent of live-born children were reported dead. The rate of untoward pregnancy outcome--death of the offspring or presence of an anomaly in a living child--was 6.4 percent among the unrelated couples in the NRR, with one spouse born outside the area of current residence ("migrant"). Considering this as the base, the excess relative risks in the other groups are: "NRR-nonmigrant," 35 percent; "HBRR-nonmigrant," 69 percent; "NRR-consanguineous," 76 percent; and "NBRR-consanguineous," 157 percent. Ionizing radiation, consanguinity, and nearness of birthplace of the spouse are risk factors for the death of offspring and for anomalies. The higher risk among the "nonmigrant" couples may be due to geographic inbreeding. The findings are suggestive of an autosomal recessive etiology for the majority of the multifactorial anomalies.

Abnormalities, Multiple↗

PubMedDate not supplied

Peeling skin syndrome: 11 cases from Saudi Arabia.

BACKGROUND: Peeling skin syndrome (PSS) is a rare genodermatoses of probable autosomal recessive inheritance. In Saudi Arabia, consanguinity of parents is common and consequently the occurrence of familial disease, including that of the skin, is not uncommon. METHODS: To characterize the clinical and pathological features of PSS in Saudi Arabia, we reviewed the medical records and clinical photographs of patients with recurring blistering diseases and conducted a histopathologic evaluation of skin biopsies to identify the site of cleavage. RESULTS: Eleven patients with PSS were seen at King Khalid National Guard Hospital in Jeddah between the years 1986 and 2005. Ages ranged between 2 and 15 years and there were 9 males (81.8%) and 2 females (18.2%). The most common presentation in the majority of patients was localized spontaneous peeling of the skin. Eight patients (72.7%) had a history of vesicles that were small, dry and peeled away. Trauma did not play a role in blister formation. All patients were local from Bedouin tribes where a family history of a similar complaint was documented in 8 cases (72.7%) and consanguinity of marriage was evident in 6 patients (54.5%). Histological examination of skin biopsies showed either intracorneal or superficial subcorneal cleavage above the granular layer in all biopsied patients. CONCLUSION: Although rare, PSS occurs in Saudi Arabia and is most likely related to consanguinity of marriages. This disease is generally mild and is characterized by intracorneal cleavage within the superficial epidermis. The disease should be recognized and not confused with other vesicobullous disease.

Adolescent↗

PubMed2001

CORD9 a new locus for arCRD: mapping to 8p11, estimation of frequency, evaluation of a candidate gene.

PURPOSE: To determine the locus of the mutant gene causing autosomal recessive cone-rod dystrophy (arCRD) in a consanguineous pedigree, to evaluate a candidate gene expressed in retina that maps to this locus, and to estimate the percentage of arCRD cases caused by mutations in this gene. METHODS: DNAs from family members were genotyped for markers covering the entire genome at an average spacing of approximately 9 centimorgans (cM). The data were input into a pedigree computer program to produce output files used to calculate lod scores. Significant linkage was revealed at 8cen, prompting the genotyping of a number of additional markers. Exons of a candidate gene were sequenced directly by standard fluorescent dideoxy methods. Haplotype analysis was performed with markers in this locus in 13 multiplex and 2 simplex CRD families in which neither parent had disease. RESULTS: Four-point linkage analysis gave a maximum lod score of approximately 7.6 at both D8S1769 and GATA101H09 in the large consanguineous family. Recombination events defined an interval of 8.7 cM between D8S1820 and D8S532 within which the gene must lie. This 8p11 locus (CORD9) is immediately distal to but distinct from the RP1 autosomal dominant RP (adRP) locus. Two islands of homozygosity were found in this locus: The alleles of 6 of 10 markers in one of the islands and 2 of 4 in the other were homozygous. The UniGene cluster Hs.8719 (UniGene System, provided by the National Center for Biotechnology Information and available at http://www.ncbi.nlm.nih.gov/UniGene), which tags a gene with significant homology to Dual Specificity Phosphatase 3, maps within the CORD9 interval and is highly expressed in the retina. To evaluate this gene as a potential disease candidate, intron-exon structure was determined, and exons were screened in the consanguineous family. No variants were found that could be related to disease. Haplotype analysis of 15 other families with CRD, using markers at CORD9, excluded this locus in 9 of 15. CONCLUSIONS: A new arCRD locus (CORD9) has been identified corresponding to a yet unidentified gene in the 8.7-cM interval D8S1820-D8S532. No mutations were found in one candidate gene in affected members of the primary study family. Haplotype analysis of a cohort of 13 multiplex and 2 simplex families with CRD ruled out the CORD9 gene in 9 of 15 of the families. To date, a total of 126 loci carrying gene mutations causing various forms of retinal degeneration have been mapped, and the mutant gene has been identified in 64 of them. However, only 2 loci for arCRD have been documented. This is the report of a third.

Chromosome Mapping↗

PubMed1992

Factors affecting birth weight in Kuwait. Part II: Pregnancy characteristics and health factors.

The aim of this was to determine the mean birth weight of Kuwaiti infants, the incidence of low birth weight and the impact of maternal age, smoking, health status, parents' consanguinity and pregnancy characteristics on infants' birth weight. The study was conducted in the major maternity hospital in Kuwait where the body weight of 1995 newborn infants was recorded shortly after birth. Data describing maternal age, duration of pregnancy, sex of the infant and maternal illness during pregnancy were recorded. Mothers were interviewed to collect data on duration between present and last pregnancy, birth order of the infant, parents' consanguinity and frequency of smoking. The results show that the mean birth weight was 3.5 Kg and the incidence of low birth weight was 3.4%. The results illustrate that young mothers were more liable to have small infants while old mothers were more liable to deliver a very heavy or low birth weight infant. The weight of the newborn infant was positively correlated with duration of pregnancy, duration between present and last pregnancy and birth order. The mean birth weight of male infants (3.51 Kg) was higher than females (3.47 Kg). Parents' consanguinity and maternal smoking had a slight effect on infants' birth weight. The results show that diabetic mothers delivered large babies. On the contrary, the incidence of low birth weight was highest (7.0%) among infants of hypertensive mothers.

Birth Order↗

PubMedDate not supplied

HLA DQA1 and DQB1 study in Algerian type 1 diabetes families.

The distribution of HLA class II alleles associated with insulin-dependent diabetes mellitus (Type 1) in the Algerian population is poorly known. We have typed 36 Algerian Type 1 diabetic probands and their families using DQA1 and DQB1 oligonucleotide probes. Fifty-nine parental haplotypes non transmitted to diabetic offspring served as controls. The frequencies of DQA1 and DQB1 alleles and haplotypes and their associations with Type 1 diabetes were, except minor differences, similar to those reported in French. Susceptibility DQA1 (Arg52+) and DQB1 (Asp57-) alleles were significantly increased among patients versus controls (90% vs 53%, RR = 8.4, p < 10(-6), and 94% vs 64%, RR = 9.4, p < 10(-5), respectively). 85% of Type 1 diabetics versus 34% of control haplotypes were either DR3DQw2 or DR4DQw8 susceptibility haplotypes (DQA1 Arg52+, DQB1 Asp57-) (RR = 10.8, p < 10(-7). 75% of the probands vs 14% of the controls (RR = 18, p < 10(-5)) and 73% of affected siblings versus 24% of unaffected siblings (RR = 8.4, p < 0.02) possessed a genotype composed of these two susceptibility haplotypes in the homozygous or heterozygous state. 42% of the probands were DR3DQw2/DR4DQw8, corresponding to Hardy-Weinberg expectations. The lack of excess of heterozygotes could be due to the consanguine families in this sample, as among the patients with consanguine parents the frequency of DR3, 4 heterozygotes was lower (27% vs 48% in non-consanguine patients, NS) and that of DR3 homozygotes increased (45% vs 12%, respectively, p < 0.03).(ABSTRACT TRUNCATED AT 250 WORDS)

Algeria↗

PubMed2005

[Genetic profile of Glanzmann's thrombasthenia in south Tunisia. Report of 17 cases (11 families)].

INTRODUCTION: Glanzmann's thrombasthenia (GT) is a rare congenital thrombopathy, with a recessive autosomal transmission. We present here the genealogic study of a series of patients suffering from GT. PATIENTS AND METHODS: This is a retrospective study about all the GT patients treated in Sfax hematology department during 18 years. Final diagnosis was established by agregometry. Genealogic study was based on clinical history. RESULTS: 17 cases of GT from 11 families from the south of Tunisia wen collected. The disease was paricularly frequent in the region of Moulares-Gafsa (7 patients). The percentage of consanguinity was also very high (82%), with a third degree consanguinity of 86%. Family investigation revealed 6 previously unknown cases, and 10 deaths subsequent to hemorrhagic manifestations. CONCLUSION: The high rate of consanguinity, the absence of clinical or biological manifestations in the parents, and the ratio of ill to normal subjects in the same family which was about one to four, are suggestive of an autosomal recessive mode of transmission.

Adolescent↗

PubMed1991

[Genealogic evidence of genetic control in Down syndrome].

The aim of this work is to reevaluate the hypothesis of the existence of a possible genetic control of nondisjunction of chromosome 21. The population under study was the families trisomy (TLI) as diagnosed in the Medical Genetic Unit of LUZ from 1971 to 1988. The control population was the families of 418 individuals with no apparent genetic pathology (CON), approximately matched in age with the patients. The frequency of consanguineous unions in parents (UCPM), maternal grandparents (UCAM) and paternal grandparents (UCAP) of both patients and controls was determined. The results indicated that UCPM was significantly greater in TLI than CON while the UCAM and UCAP were more frequent in CON. The coefficient of consanguinity in parents of TLI was three times greater than in parents of CON. The results of this investigation suggest that the consanguinity should be considered another risk factor for the nondisjunction of chromosome 21 and it is independent of maternal age and support the hypothesis that there exists an autosomal recessive gene that, in the homologous state, results in a predisposition toward nondisjunction of chromosome 21 in the first mitotic division.

Consanguinity↗

PubMed1991

Note on estimates of the inbreeding coefficient through study of pedigrees and isonymous marriages.

Crow and Mange (1965) developed a method to estimate the inbreeding coefficient (F) through an ingenious surname analysis. Such formulations assume a regularity of transmission of surnames, monophyletism, and random occurrence of consanguineous marriages. Accordingly, the ratio of isonymous partners to F of the offspring is equal to 4. Nevertheless, genealogy analyses show that the consanguineous marriages do not necessarily occur regularly. Therefore the isonymy analysis gives a misestimation of the inbreeding coefficient, depending on the prevailing form of nonrandomness. We suggest a small correction to the formulation in situations when pedigree information is available. The weighted mean of the ratio of isonymous partners to F of the known consanguineous marriages is suggested as a way to improve the formulas. The technique was applied to a northeastern Brazilian sample, and the results agree well with those of bioassays and therefore provide an apparently more realistic estimate of the inbreeding coefficient by isonymy.

Brazil↗

PubMed1985

Estimation of inbreeding by isonymy in Iberoamerican populations: an extension of the method of Crow and Mange.

The method of isonymy for the estimation of inbreeding levels was extended to use the potentialities offered by the Iberoamerican surname system, in which a child inherits his surnames both from the father and the mother. Four possible types of isonymy were recognized between the family names of a husband-wife pair. It was found that, limited to simple consanguinity, the ratio between isonymy and the inbreeding coefficient of consanguineous individuals, starting from first cousins, is constant and equal to 16. Consanguinity levels were studied in four Venezuelan groups, Isla de Toas, Los Teques, Quibor, and Colonia Tovar, using genealogies, classical isonymy, and the extended method. It was found that, for Iberoamerican populations, the extended method is more precise than the classical method.

Consanguinity↗

PubMed1978

[Population structure and consaguinity in Dota, Costa Rica, 1888-1962].

A study of consanguinity and population structure was carried out in a sample of 498 consanguineous (MC) and 570 non-consanguineous matings (MNC) in the Parrish of Dota, Costa Rica, during a period of 75 years. The inbreeding coefficient (F) shows fluctuations in time (476 to 194 x 10(-5) with an increase from 1888 to 1917, followed by a decrease in the last years but remains high in nonmigrant marriages. There is a high frequency of unions among second cousins. The endogamy percentage is high, greater in MC (80%) than in MNC (61%). Exogamy tends to diminish with time among both types of union. Effects of age distributions in the groups was not found. Marital and migrational distances are short and tend to become shorter in the final periods. There is a positive correlation (r = 0.71; p less than 0.05) between these distances in MC but not in MNC; distances are shorter in MC. Immigration is minimal and reduced to short distances. Post-marital movement is intense (37%) and involves greater distances. Emigratory behavior is identical in MC and MNC.

Consanguinity↗