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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
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Disease relevance of Consanguinity


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


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


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


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].


  1. Unusual traits associated with Robinow syndrome. Sabry, M.A., Ismail, E.A., al-Naggar, R.L., al-Torki, N.A., Farah, S., al-Awadi, S.A., Obenbergerova, D., Bastaki, L. J. Med. Genet. (1997) [Pubmed]
  2. Correlation of granuloma structure with clinical outcome defines two types of idiopathic disseminated BCG infection. Emile, J.F., Patey, N., Altare, F., Lamhamedi, S., Jouanguy, E., Boman, F., Quillard, J., Lecomte-Houcke, M., Verola, O., Mousnier, J.F., Dijoud, F., Blanche, S., Fischer, A., Brousse, N., Casanova, J.L. J. Pathol. (1997) [Pubmed]
  3. Prenatal diagnosis and fetal pathology in a Turkish family harboring a novel nonsense mutation in the lysosomal alpha-N-acetyl-neuraminidase (sialidase) gene. Sergi, C., Penzel, R., Uhl, J., Zoubaa, S., Dietrich, H., Decker, N., Rieger, P., Kopitz, J., Otto, H.F., Kiessling, M., Cantz, M. Hum. Genet. (2001) [Pubmed]
  4. Heterotaxy-neural tube defect and holoprosencephaly occuring independently in two sib fetuses. Bonneau, D., Maréchaud, M., Odent, S., Piegay, I., Godard, A., Amati, P. Am. J. Med. Genet. (1999) [Pubmed]
  5. Further delineation of the Cohen syndrome; report on chorioretinal dystrophy, leukopenia and consanguinity. Norio, R., Raitta, C., Lindahl, E. Clin. Genet. (1984) [Pubmed]
  6. Localization of cystic fibrosis locus to human chromosome 7cen-q22. Wainwright, B.J., Scambler, P.J., Schmidtke, J., Watson, E.A., Law, H.Y., Farrall, M., Cooke, H.J., Eiberg, H., Williamson, R. Nature (1985) [Pubmed]
  7. Familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. Effects of mutant gene dosage on phenotype. Pollak, M.R., Chou, Y.H., Marx, S.J., Steinmann, B., Cole, D.E., Brandi, M.L., Papapoulos, S.E., Menko, F.H., Hendy, G.N., Brown, E.M. J. Clin. Invest. (1994) [Pubmed]
  8. Clinical and molecular findings in osteoporosis-pseudoglioma syndrome. Ai, M., Heeger, S., Bartels, C.F., Schelling, D.K. Am. J. Hum. Genet. (2005) [Pubmed]
  9. Mapping of gene loci for nephronophthisis type 4 and Senior-Løken syndrome, to chromosome 1p36. Schuermann, M.J., Otto, E., Becker, A., Saar, K., Rüschendorf, F., Polak, B.C., Ala-Mello, S., Hoefele, J., Wiedensohler, A., Haller, M., Omran, H., Nürnberg, P., Hildebrandt, F. Am. J. Hum. Genet. (2002) [Pubmed]
  10. Localization of a gene responsible for autosomal recessive demyelinating neuropathy with focally folded myelin sheaths to chromosome 11q23 by homozygosity mapping and haplotype sharing. Bolino, A., Brancolini, V., Bono, F., Bruni, A., Gambardella, A., Romeo, G., Quattrone, A., Devoto, M. Hum. Mol. Genet. (1996) [Pubmed]
  11. Consanguinity and congenital heart disease in Saudi Arabia. Becker, S.M., Al Halees, Z., Molina, C., Paterson, R.M. Am. J. Med. Genet. (2001) [Pubmed]
  12. A survey of visual defects on Tristan da Cunha, 1984. Harwood, K.A. Ophthalmic & physiological optics : the journal of the British College of Ophthalmic Opticians (Optometrists). (1987) [Pubmed]
  13. Urea cycle disorders in Thai infants: a report of 5 cases. Wasant, P., Srisomsap, C., Liammongkolkul, S., Svasti, J. Journal of the Medical Association of Thailand = Chotmaihet thangphaet. (2002) [Pubmed]
  14. An epidemiological study of congenital malformations in newborn. Chaturvedi, P., Banerjee, K.S. Indian journal of pediatrics. (1993) [Pubmed]
  15. A stop codon in xeroderma pigmentosum group C families in Turkey and Italy: molecular genetic evidence for a common ancestor. Gozukara, E.M., Khan, S.G., Metin, A., Emmert, S., Busch, D.B., Shahlavi, T., Coleman, D.M., Miller, M., Chinsomboon, N., Stefanini, M., Kraemer, K.H. J. Invest. Dermatol. (2001) [Pubmed]
  16. Severe hypercholesterolaemia: unusual inheritance in an Italian pedigree. Zuliani, G., Vigna, G.B., Corsini, A., Maioli, M., Romagnoni, F., Fellin, R. Eur. J. Clin. Invest. (1995) [Pubmed]
  17. Genotype-phenotype correlation in 2 Indian families with severe granular corneal dystrophy. Kannabiran, C., Sridhar, M.S., Chakravarthi, S.K., Vemuganti, G.K., Lakshmipathi, M. Arch. Ophthalmol. (2005) [Pubmed]
  18. Dominant inheritance in two families with familial Mediterranean fever (FMF). Yuval, Y., Hemo-Zisser, M., Zemer, D., Sohar, E., Pras, M. Am. J. Med. Genet. (1995) [Pubmed]
  19. Identification of two point mutations in the von Willebrand factor gene of three families with the 'Normandy' variant of von Willebrand disease. Gaucher, C., Mercier, B., Jorieux, S., Oufkir, D., Mazurier, C. Br. J. Haematol. (1991) [Pubmed]
  20. Compound heterozygous mutations affecting both hepatic and erythrocyte isozymes of pyruvate kinase. Uenaka, R., Nakajima, H., Noguchi, T., Imamura, K., Hamaguchi, T., Tomita, K., Yamada, K., Kuwajima, M., Kono, N., Tanaka, T. Biochem. Biophys. Res. Commun. (1995) [Pubmed]
  21. Risk factors for childhood epilepsy: a case-control study from Irbid, Jordan. Daoud, A.S., Batieha, A., Bashtawi, M., El-Shanti, H. Seizure : the journal of the British Epilepsy Association. (2003) [Pubmed]
  22. Lethal familial pellagra-like skin lesion associated with neurologic and developmental impairment and the development of cataracts. Salih, M.A., Bender, D.A., McCreanor, G.M. Pediatrics (1985) [Pubmed]
  23. Mal de Meleda (MDM) caused by mutations in the gene for SLURP-1 in patients from Germany, Turkey, Palestine, and the United Arab Emirates. Eckl, K.M., Stevens, H.P., Lestringant, G.G., Westenberger-Treumann, M., Traupe, H., Hinz, B., Frossard, P.M., Stadler, R., Leigh, I.M., Nürnberg, P., Reis, A., Hennies, H.C. Hum. Genet. (2003) [Pubmed]
  24. Brief clinical report: a sixth report (eighth case) of craniosynostosis-radial aplasia (Baller-Gerold) syndrome. Pelias, M.Z., Superneau, D.W., Thurmon, T.F. Am. J. Med. Genet. (1981) [Pubmed]
  25. Clinical and genetic relationships between autism-pervasive developmental disorder and Tourette syndrome: a study of 19 cases. Comings, D.E., Comings, B.G. Am. J. Med. Genet. (1991) [Pubmed]
  26. Survey of the allergic status of patients with bronchial asthma in Turkey: a multicenter study. Kalyoncu, A.F., Cöplü, L., Selçuk, Z.T., Emri, A.S., Kolaçan, B., Kocabaş, A., Akkoçlu, A., Erkan, L., Sahin, A.A., Bariş, Y.I. Allergy (1995) [Pubmed]
  27. Familial Growth Hormone Deficiency and Mutations in the GHRH Receptor Gene. Alba, M., Salvatori, R. Vitam. Horm. (2004) [Pubmed]
  28. Congenital hypothyroidism and apparent athyreosis with compound heterozygosity or compensated hypothyroidism with probable hemizygosity for inactivating mutations of the TSH receptor. Park, S.M., Clifton-Bligh, R.J., Betts, P., Chatterjee, V.K. Clin. Endocrinol. (Oxf) (2004) [Pubmed]
  29. Progression of phenotype in Leber's congenital amaurosis with a mutation at the LCA5 locus. Mohamed, M.D., Topping, N.C., Jafri, H., Raashed, Y., McKibbin, M.A., Inglehearn, C.F. The British journal of ophthalmology. (2003) [Pubmed]
  30. Pantothenate kinase-associated neurodegeneration initially presenting as postural tremor alone in a Japanese family with homozygous N245S substitutions in the pantothenate kinase gene. Yamashita, S., Maeda, Y., Ohmori, H., Uchida, Y., Hirano, T., Yonemura, K., Uyama, E., Uchino, M. J. Neurol. Sci. (2004) [Pubmed]
  31. A new missense mutation in the growth hormone-releasing hormone receptor gene in familial isolated GH deficiency. Carakushansky, M., Whatmore, A.J., Clayton, P.E., Shalet, S.M., Gleeson, H.K., Price, D.A., Levine, M.A., Salvatori, R. Eur. J. Endocrinol. (2003) [Pubmed]
  32. Somatosensory evoked potentials and EEG findings in siblings of juvenile myoclonic epilepsy patients. Atakli, D., Soysal, A., Atay, T., Altintas, H., Arpaci, B., Baybas, S. Epileptic disorders : international epilepsy journal with videotape. (1999) [Pubmed]
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