Disease relevance of Consanguinity

• In a Pakistani family with a high degree of multigenerational consanguinity, a single case with the Robinow phenotype also had congenital heart disease, mainly involving the right side of the heart, with pulmonary stenosis, tricuspid atresia, ASD, VSD, double outlet right ventricle, and right atrial isomerism [1].
• However, the high rates of parental consanguinity and familial forms and the associated opportunistic infections with Salmonella suggest that these idiopathic BCG infections result from one or several new type(s) of inherited immune disorder(s) [2].
• We report a Turkish family with parental consanguinity and at risk for sialidosis type II, an inherited autosomal recessive disorder caused by lysosomal alpha-N-acetyl-neuraminidase (sialidase, NEU1) deficiency [3].
• The occurrence of these malformations in sibs of different sexes and the parental consanguinity suggest a recessive mutation in a gene responsible for both heterotaxy and midline defects, including holoprosencephaly [4].
• Further delineation of the Cohen syndrome; report on chorioretinal dystrophy, leukopenia and consanguinity [5].

High impact information on Consanguinity

• Consanguinity studies have shown that the inheritance of CF is consistent with it being a recessive defect caused by a mutation at a single autosomal locus [6].
• These loci were then analyzed in four families with parental consanguinity and offspring with neonatal severe hyperparathyroidism [7].
• When we compared clinical features between probands with and without LRP5 mutations, we found no difference in the severity of skeletal disease, prevalence of cognitive impairment, or family history of consanguinity [8].
• In one family with NPHP4, extensive genealogical studies were conducted, revealing consanguinity during the 17th century [9].
• We first described a large pedigree with CMT4B, which showed a high consanguinity level and an autosomal recessive pattern of inheritance [10].

Chemical compound and disease context of Consanguinity

• There was no relationship between consanguinity and tetralogy of Fallot (TOF), tricuspid atresia (TA), aortic stenosis (AS), co-arctation of the aorta (CoA), and patent ductus arteriosus (PDA) [11].
• This paper gives data, obtained during 1984, on the incidence of refractive error and ocular disease in the small, isolated island community of Tristan da Cunha in the South Atlantic. In general, despite inevitable consanguinity among the population of less than 300, ocular health is good [12].
• There was a history of parental consanguinity and he was referred to Siriraj Hospital on day 64 with severe essential amino acid deficiency and acrodermatitis enteropathica with markedly elevated plasma citrulline level [13].
• The factors which significantly increased the rate of congenital malformation were consanguinity in parents, heredofamilial history of malformations, presence of hydramnios, maternal febrile illness in first trimester, past history of abortion and history of progesterone intake during pregnancy [14].

Biological context of Consanguinity

• Restriction fragment length polymorphism analysis of XPC exon 8 DNA in XP67TMA and XP68TMA showed that both affected children had a homozygous mutation and that both parents had heterozygous normal and mutated sequences at the same position consistent with a history of consanguinity in the family [15].
• This family is characterized by consanguinity, absence of vertical transmission, bimodal distribution of plasma cholesterol values, and reduction of reproductive fitness in affected individuals [16].
• CLINICAL RELEVANCE: Homozygous granular corneal dystrophy has a severe phenotype and can be recognized based on clinical and histopathologic features, especially in association with consanguinity or inbreeding [17].
• In 75 of these families the occurrence of FMF in more than one generation was found to be consistent with a recessive mode of inheritance due to a high gene frequency (q) and consanguinity among parents of the patients [18].
• In the present studies we report two unrelated new cases of vWD 'Normandy' and characterize, using the analysis of the vWf gene intron 40 region containing a variable number of tandem repeats, the recessive inheritance of the disease in two affected families without known consanguinity [19].

Anatomical context of Consanguinity

• Novel erythrocyte pyruvate kinase gene defects were found in a patient without a family history of consanguinity [20].
• Central nervous system infections and parental consanguinity did not add to the risk of developing epilepsy [21].

Associations of Consanguinity with chemical compounds

• A new hereditary defect of tryptophan metabolism is described in a Sudanese family with a high degree of consanguinity [22].
• In a large Palestinian pedigree with multiple consanguinity, patients are homozygous for a new mutation that substitutes an arginine for a conserved glycine residue at position 86 [23].
• Parenteral consanguinity supports the suggestion that this condition is inherited in an autosomal recessive manner [24].
• This would explain the similarity of symptoms, frequent evolution of PDD into TS, the apparent recessive inheritance of PDD despite no increase in consanguinity, the high frequency of behavior problems in the relatives of PDD----TS patients and the serotonin abnormalities [25].
• Atopic status, total IgE levels, and allergen spectra were determined in 1149 patients and 210 controls who were spouses of the patients sharing the same environment but not consanguinity with the patients [26].

Gene context of Consanguinity

• The first human GHRHR mutations were discovered in families with a history of parental consanguinity [27].
• OBJECTIVE: We wished to ascertain whether mutations in the TSH receptor (TSHR) gene were present in two siblings with congenital hypothyroidism with no parental consanguinity [28].
• The ocular findings and the evolution of the macula staphyloma are described in five members of a Pakistani family with consanguinity and a mutation in the LCA5 gene [29].
• Direct sequencing of the patient's genomic DNA revealed homozygous base substitutions in the pantothenate kinase gene (PANK2): the A764-->G substitution (N245S) due to consanguinity of her parents [30].
• We searched for GHRHR mutations in two siblings with IGHD type IB and a history of parental consanguinity [31].

Analytical, diagnostic and therapeutic context of Consanguinity

• The consanguinity rate was higher in parents of patients who had at least one asymptomatic sibling with EEG and/or SEP abnormalities (68.7%) than in those of patients who had siblings with no EEG and SEP abnormalities (9.9%) [32].

References