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. 1976 Dec;13(6):434–438. doi: 10.1136/jmg.13.6.434

Infantile cystinosis in France: genetics, incidence, geographic distribution.

E Bois, J Feingold, P Frenay, M L Briard
PMCID: PMC1013467  PMID: 1018302

Abstract

A national distribution of 66 French patients, from 49 sibships, has been studied. Segregation analysis, using the maximum likelihood method, was found to agree with the theoretical values expected in recessive autosomal inheritance. The birthplaces of these patients show an unequal geographic distribution of cystinosis, the incidence being higher in Western France. Compared with the total number of live births during the period 1959 to 1972, the minimum incidence of the condition in the province of Brittany is 1 per 25 909, and the gene frequency 0.0062. In the rest of France, the minimum incidence is 1 per 326,440 and the gene frequency 0.0018. Application of Dahlberg's formula gives a similar result. The mean inbreeding coefficient is 530 X 10(-5), a figure 23 times higher than the mean coefficient of France. An indirect test of inbreeding, the distance between parental birthplaces, was studied, first using the French administrative boundaries, second by using kilometers. This distance was constantly smaller for the parents of patients than for the parents of controls. Analysis of two erythrocyte polymorphisms (ABO and Rh) showed a large excess of group A patients when compared with overall French data. These findings are difficult to interpret on genetic grounds. The genetic reasons for the unequal geographic distribution of cystinosis in France are discussed.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Brubaker R. F., Wong V. G., Schulman J. D., Seegmiller J. E., Kuwabara T. Benign cystinosis. The clinical, biochemical and morphologic findings in a family with two affected siblings. Am J Med. 1970 Oct;49(4):546–550. doi: 10.1016/s0002-9343(70)80049-3. [DOI] [PubMed] [Google Scholar]
  2. CARTER C. O., WOOLF L. I. The birthplaces of parents and grandparents of a series of patients with phenylketonuria in in south-east England. Ann Hum Genet. 1961 May;25:57–64. doi: 10.1111/j.1469-1809.1961.tb01497.x. [DOI] [PubMed] [Google Scholar]
  3. Feingold J., Hennequet A., Jehanne M., Feigelson J., Toudic L., Quiniou O., Briard M. L. Fréquence de la fibrose kystique du pancréas en France. Ann Genet. 1974 Dec;17(4):257–259. [PubMed] [Google Scholar]
  4. Goldman H., Scriver C. R., Aaron K., Delvin E., Canlas Z. Adolescent cystinosis: comparisons with infantile and adult forms. Pediatrics. 1971 Jun;47(6):979–988. [PubMed] [Google Scholar]
  5. Kroll W., Lichte K. H. Cystinosis: a review of the different forms and of recent advances. Humangenetik. 1973;20(2):75–87. doi: 10.1007/BF00284842. [DOI] [PubMed] [Google Scholar]
  6. Kroll W., Lichte K. H., Lutz P., Maurer R. Cystinosis: quantitative assay of cystine accumulation of homozygotes and heterozygotes. Humangenetik. 1973;17(4):337–340. doi: 10.1007/BF00273189. [DOI] [PubMed] [Google Scholar]
  7. Milunsky A., Littlefield J. W., Kanfer J. N., Kolodny E. H., Shih V. E., Atkins L. Prenatal genetic diagnosis. I. N Engl J Med. 1970 Dec 17;283(25):1370–1381. doi: 10.1056/NEJM197012172832505. [DOI] [PubMed] [Google Scholar]
  8. Morton N. E., Klein D., Hussels I. E., Dodinval P., Todorov A., Lew R., Yee S. Genetic structure of Switzerland. Am J Hum Genet. 1973 Jul;25(4):347–361. [PMC free article] [PubMed] [Google Scholar]
  9. Moses S. W., Bashan N., Skibin A., Biran H., Gutman A. Genetic traits and diseases in the North African Jewish community. Isr J Med Sci. 1973 Sep-Oct;9(9):1407–1409. [PubMed] [Google Scholar]
  10. Moses S. W., Boichis N. [Cystinosis]. Harefuah. 1975 Feb 2;88(3):122–129. [PubMed] [Google Scholar]
  11. Norio R., Nevanlinna H. R., Perheentupa J. Hereditary diseases in Finland; rare flora in rare soul. Ann Clin Res. 1973 Jun;5(3):109–141. [PubMed] [Google Scholar]
  12. Schneider J. A., Wong V., Seegmiller J. E. The early diagnosis of cystinosis. J Pediatr. 1969 Jan;74(1):114–116. doi: 10.1016/s0022-3476(69)80017-x. [DOI] [PubMed] [Google Scholar]
  13. Schulman J. D. Cystinosis. Birth Defects Orig Artic Ser. 1974;10(4):114–117. [PubMed] [Google Scholar]
  14. WILLIAMSON D. A. J. Cystinosis. Arch Dis Child. 1952 Aug;27(134):356–363. doi: 10.1136/adc.27.134.356. [DOI] [PMC free article] [PubMed] [Google Scholar]

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