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At least 37 records · Page 2Linked to original sources
PubMed1976

Aspects of pre-eclamptic toxaemia of pregnancy, consanguinity, twinning in Ankara.

It appears that women classed as having pre-eclamptic toxaemia are less frequently consanguineous with their husbands than all other mothers and in particular those mothers classed as having pregnancies complicated by chronic hypertensive disease. Search revealed no evidence for possible biases which could have stimulated such findings. Further evidence is advanced suggesting that, though pre-eclamptic toxaemia is more common in all types of twin pregnancies than in single births, it is more common where the twins are dizygous than where they are monozygous. It is pointed out that both these findings would be expected if there was a contribution to the aetiology of pre-eclamptic toxaemia by maternal/fetal immunological incompatibility. However, if such a mechanism exists it is not always determined at the same gene locus.

Birth Order↗
PubMed1976

Cervical vertebral fusion (Klippel-Feil) syndrome with consanguineous parents.

We describe a female infant with the cervical vertebral fusion (Klippel-Feil) syndrome whom we recognized at birth because of her short neck, restriction of cervical movement, and low posterior hairline. X-ray examination showed anomalies of C1, and between C2-3 and C3-4; thus, we classified her as type II, with variable cervical fusion. At 24 months she was small and manifested hearing deficiency. The mother and father were consanguineous with five common ancestors four generations ago, which resulted in a coefficient of inbreeding equivalent to a second cousin relationship. The parents and grandparents were phenotypically normal, and the parents were radiologically normal. This form of the syndrome has previously been said to be autosomal dominant. Our conclusion of determination by a single autosomal recessive gene is evidence of genetic heterogeneity.

Adult↗
PubMed1978

Bilateral renal agenesis in 2 male sibs born to consanguineous parents.

Two boys with bilateral agenesis of kidneys and ureters were the product of a consanguineous marriage. This family and previous reports of familial bilateral renal agenesis support the supposition that a minor proportion of cases of BRA is caused by the homozygous state of an autosomal recessive gene.

Consanguinity↗
PubMed1979

Non-progressive cerebellar ataxia, aplasia of pupillary zone of iris, and mental subnormality (Gillespie's syndrome) affecting 3 members of a non-consanguineous family in 2 generations.

A family is reported in which a brother and sister both showed non-progressive cerebellar ataxia, aplasia of the pupillary zone of the iris, and mild mental subnormality. These clinical findings were similar to those in two previous case reports. Despite the birth of an affected son to the affected sister, this family is considered to confirm autosomal recessive inheritance of this syndrome. The paternity of the mother's husband is supported by blood groups and biochemical markers and it is presumed that the husband is a heterozygote, even though no consanguinity could be detected.

Adolescent↗
PubMed1975

Consanguinity and demography in some Chilean populations.

Spatial and temporal changes in the rates and the patterns of consanguinity are studied in some (indigenous as well as admixed) populations of Chile. Relationship between the variation of infant mortality and late fetal death rates with the degree of inbreeding is also explored. The need of a temporal study of these demographic variables is also emphasized to elucidate the influence of marriage structure or determined reproductive patterns on the genetic and demographic aspects within these populations.

Birth Rate↗
PubMed1978

Consanguinity in multifactorial inheritance. Application to data on congenital glaucoma.

The increase of parental consanguinity in multifactorial inheritance is evaluated by calculating the expected incidence of affected children whose parents are first cousins, using several values, namely for condition frequency and heritability of liability. This increase is compared to the expected increase in recessive inheritance, when one or more loci are involved. The method is illustrated by examples of recessive and multifactorial conditions and applied, as a test of discrimination between different modes of inheritance, to data on congenital glaucoma.

Consanguinity↗
PubMed2024

A novel start-loss mutation of the SLC29A3 gene in a consanguineous family with H syndrome: clinical characteristics, in silico analysis and literature review.

BACKGROUND: The SLC29A3 gene, which encodes a nucleoside transporter protein, is primarily located in intracellular membranes. The mutations in this gene can give rise to various clinical manifestations, including H syndrome, dysosteosclerosis, Faisalabad histiocytosis, and pigmented hypertrichosis with insulin-dependent diabetes. The aim of this study is to present two Iranian patients with H syndrome and to describe a novel start-loss mutation in SLC29A3 gene. METHODS: In this study, we employed whole-exome sequencing (WES) as a method to identify genetic variations that contribute to the development of H syndrome in a 16-year-old girl and her 8-year-old brother. These siblings were part of an Iranian family with consanguineous parents. To confirmed the pathogenicity of the identified variant, we utilized in-silico tools and cross-referenced various databases to confirm its novelty. Additionally, we conducted a co-segregation study and verified the presence of the variant in the parents of the affected patients through Sanger sequencing. RESULTS: In our study, we identified a novel start-loss mutation (c.2T > A, p.Met1Lys) in the SLC29A3 gene, which was found in both of two patients. Co-segregation analysis using Sanger sequencing confirmed that this variant was inherited from the parents. To evaluate the potential pathogenicity and novelty of this mutation, we consulted various databases. Additionally, we employed bioinformatics tools to predict the three-dimensional structure of the mutant SLC29A3 protein. These analyses were conducted with the aim of providing valuable insights into the functional implications of the identified mutation on the structure and function of the SLC29A3 protein. CONCLUSION: Our study contributes to the expanding body of evidence supporting the association between mutations in the SLC29A3 gene and H syndrome. The molecular analysis of diseases related to SLC29A3 is crucial in understanding the range of variability and raising awareness of H syndrome, with the ultimate goal of facilitating early diagnosis and appropriate treatment. The discovery of this novel biallelic variant in the probands further underscores the significance of utilizing genetic testing approaches, such as WES, as dependable diagnostic tools for individuals with this particular condition.

Humans↗
PubMed2024

A novel frameshift variant in the TMPRSS3 gene causes nonsyndromic hearing loss in a consanguineous family.

BACKGROUND: Hearing Loss (HL) is the most common sensorineural condition in humans. Mutations in the TMPRSS3 gene (DNFB8/10 locus) have been linked to autosomal recessive non-syndromic hearing loss (ARNSHL). METHODS: Whole-exome sequencing (WES) was utilized to identify disease-causing variants in a proband from Iran with ARNSHL who presented clinically with sensorineural, bilateral, and prelingual HL. The pathogenicity and novelty of the identified variant were assessed using various databases. A co-segregation study was also performed to confirm the presence of the variant in the proband's parents. Additionally, the secondary and tertiary structures of the mutant TMPRSS3 protein were predicted using bioinformatics tools. Furthermore, a global mutational spectrum of TMPRSS3 was created and statistically analyzed. The Iranome database was also used to identify other putative mutations in the TMPRSS3 gene in the Iranian population. RESULTS: We identified a novel homozygous single nucleotide deletion in TMPRSS3 (c.297delA, p.Asp100ThrfsTer52) in the proband. This is the first report of this mutation in a patient with ARNSHL. Sanger sequencing confirmed that this variant co-segregated from the proband's parents. Bioinformatic tools classified this novel variant as likely pathogenic. Additionally, 49.55% of families with TMPRSS3-related HL patients were shown to have consanguinity, consistent with our study. The Iranome database also revealed the c.268G > A variant as a putative novel mutation in TMPRSS3. CONCLUSION: This research expanded the pool of evidence regarding the association between mutations in the TMPRSS3 gene and ARNSHL. The finding confirmed that a single nucleotide deletion caused HL in the proband, suggesting that genetic testing, such as WES, is a robust technique for diagnosing patients with this condition.

Humans↗
PubMed1977

Adult onset autonomic dysfunction coexistent with familial dysautonomia in a consanguineous family.

A consanguineous family is described in which autonomic dysfunction developed in the father during adult life while the son had familial dysautonomia at birth. The father's condition is felt to be secondary to olivopontocerebellar atrophy. The concurrence in this family of an adult and a childhood form of dysautonomia may be an expression of the same genetic defect at different stages of development.

Adult↗
PubMed1976

[Consanguineous analysis of oligophrenia].

Consanguineous analysis of 214 cases of oligophreny has shown a statistically significant higher level of inbreeding in a population of oligophrenes as compared to the general population. No linear dependence was observed between the degree of oligophrenic defect and the inbreeding coefficient. A high statistically significant level of inbreeding was established in cases of familial oligophreny as compared to sporadic oligophreny. A probability of the existence of the genes of oligophreny linked with the X-chromosome is not excluded.

Chromosome Aberrations↗
PubMed1979

[Genetic counseling in consanguinous marriages].

The authors report their own experience as regard to the genetic counseling for consanguineous marriages. They observe that outpatients still marry and procreate despite the medical advices.

Consanguinity↗
PubMed1977

Consanguinity analysis in heterogeneous populations.

Consanguinity analysis can be performed in populations comprising collections of genetic isolates, and the resulting estimates can be valid and useful in phenotypes caused by numerous recessive genes, such as mental retardation and congenital nerve deafness. Maximum likelihood methods are presented for estimating gene frequency and proportions of homozygous cases of morbid phenotypes in such populations.

Consanguinity↗
PubMed1977

Consanguinity analysis in Israeli mental retardates.

Consanguinity rates were analyzed in 904 families of retardates studied in 11 Israeli Jewish ethnic groups. It was estimated that the representative recessive gene frequency is .00518, implying that a gene equilibrium maintained by mutation alone is improbable and that some other hypothesis should be considered. The proportions of homozygotes among the following idiopathic subgroups are estimated as follows: 18%-19% homozygotes among severe idiopathic retardates with nonconsanguineous parents and no affected siblings; 74%-76% homozygotes among severe idiopathic retardates with first-cousin parents and no affected siblings; 5% homozygotes among mild idiopathic and idiopathic-familial retardates with nonconsanguineous parents; and 41% homozygotes among mild idiopathic and idiopathic-familial retardates with first-cousin parents. The estimated number of major gene loci within ethnic groups is 17-21 for severe idiopathic retardation and 43-61 for mild idiopathic retardation. These findings provide a basis for genetic counseling of families with single retardates of unknown cause. They can also be useful in epidemiologic studies of nongenetic factors. The great prevalence of common gene defects causing retardation, coupled with the rarity of disorders of amino acid metabolism in the same series, seem to indicate that further emphasis on amino acid metabolism may be nonproductive in the scientific study of retardation and that other biochemical approaches should be encouraged.

Amino Acid Metabolism, Inborn Errors↗
PubMedDate not supplied

[Spinal muscle atrophy in the offspring of consanguineous parents].

A child of consanguineous parents (first cousins) has spinal muscular atrophy. Two siblings of the mother are similarly effected. In recessive autosomal type of inheritance such close relation of patents increases greatly the risk of having an affected child.

Child, Preschool↗
PubMed1978

[Mental capacity and human consanguinity].

Mental abilities and inbreeding. The comparison between 1,302 adults born from consanguineous marriages underlines a heavy depression of mental abilities. The load of inbreeding equals the load of environment, both adding their influences, without interaction. Homozygosity acts probably more particularly on the brain.

Consanguinity↗
PubMed2026

A recurrent CCDC82 frameshift variant associated with syndromic neurodevelopmental disorder in a consanguineous Pakistani family.

BACKGROUND: Intellectual disabilities (IDs) are part of neurodevelopmental disorders (NDDs) and are genetically heterogeneous conditions characterized by impairments in cognition, learning, and adaptive functioning. Despite advances in gene discovery, many individuals, particularly those from understudied populations, remain without a molecular diagnosis. Recent reports implicate CCDC82 (HGNC: 26282) as an autosomal recessive ID gene, although the phenotypic spectrum and biological context remain incompletely defined. METHODS: Exome sequencing (ES) was performed in a consanguineous Pakistani family (PKMR06A) with four affected individuals presenting with moderate to severe ID. Variant segregation was confirmed by Sanger sequencing. In silico analyses, including pathogenicity prediction, protein structural modeling, and domain intolerance assessment, were used to evaluate the functional consequences of the identified variant. Spatiotemporal gene expression patterns were examined using bulk and single-cell human brain transcriptomic datasets. RESULTS: Clinically, affected individuals of family PKMR06A presented with early childhood global developmental delay, speech delay, hypotonia, gait abnormalities, spasticity, and mild facial dysmorphism. Genetic screening revealed a recurrent rare homozygous frameshift variant in CCDC82 (NM_024725.4): c.373del; p.(Asp125Ilefs*6), segregating with disease in all available affected individuals of the family. The identified c.373del variant was absent from the gnomAD database and was classified as pathogenic (PVS1, PM2, and PP1) based on ACMG/AMP criteria. The c.373del variant is predicted to introduce a premature termination codon, p.(Asp125Ilefs*6), leading to deletion of essential coiled-coil domains from the encoded protein, supporting a loss-of-function mechanism. In silico, transcriptomic analyses demonstrated preferential CCDC82 expression during prenatal human brain development, providing developmental context for the neurodevelopmental phenotype associated with the identified truncating variant. CONCLUSIONS: This study expands the mutational landscape of CCDC82 and provides additional clinical and molecular evidence supporting its role in autosomal recessive NDD. The findings reinforce the importance of CCDC82 in human neurodevelopment and highlight the value of genomic investigation in underrepresented populations.

Autosomal recessive↗
PubMed2026

Biallelic EZH1 Nonsense Novel Variant in Two Siblings with Neurodevelopmental Disorder and Central Precocious Puberty: A Case Report from a Consanguineous Saudi Family.

Neurodevelopmental disorders (NDDs) are a group of conditions that impair the development and function of the central nervous system. Recently, variants in the EZH1 gene have been associated with neurodevelopmental disorders. Here, using whole-exome sequencing coupled with confirmatory Sanger sequencing, we identified a homozygous nonsense variant in EZH1 in two affected siblings. Both parents were heterozygous carriers of the variant. The variant is predicted to result in a 44-amino acid C-terminal truncation within the catalytic SET domain, leading to loss of protein function. RT-qPCR analysis revealed significantly reduced EZH1 mRNA expression in patient-derived peripheral blood cells. The index patient (female) also exhibited elevated gamma-glutamyl transferase (GGT) levels and hypoalbuminemia, whereas the affected male presented with central precocious puberty. This study further expands the clinical, genetic, and molecular spectrum of EZH1-associated neurodevelopmental disorders by demonstrating that reduced EZH1 expression is consistent with a loss-of-function disease mechanism.

Child↗