Skip to main content
PMC home page
American Journal of Human Genetics logoLink to American Journal of Human Genetics
. 1983 Nov;35(6):1241–1251.

X-linked inheritance of Alport syndrome: family P revisited.

S J Hasstedt, C L Atkin
PMCID: PMC1685969  PMID: 6650503

Abstract

Likelihood analysis using two autosomal/X-linked mixed models confirmed that Alport syndrome is an X-linked dominant disease in a large Utah kindred, family P. The penetrance was estimated as .85 in females and 1.0 in males. Previously reported abnormal segregation ratios were reexamined. No excess of affected offspring of affected parents was found. Nor was the penetrance in daughters of asymptomatic carrier mothers found to be lower than in the daughters of symptomatic mothers, although the sample size was small. However, there was an unexplained deficiency of sons of affected fathers. There was no deficiency of sons of affected mothers, nor was there a deficiency of males in the kindred.

Full text

PDF
1247

Selected References

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

  1. CASSADY G., BROWN K., COHEN M., DEMARIA W. HEREDITARY RENAL DYSFUNCTION AND DEAFNESS. Pediatrics. 1965 Jun;35:967–979. [PubMed] [Google Scholar]
  2. Cannings C., Thompson E. A. Ascertainment in the sequential sampling of pedigrees. Clin Genet. 1977 Oct;12(4):208–212. doi: 10.1111/j.1399-0004.1977.tb00928.x. [DOI] [PubMed] [Google Scholar]
  3. Chazan J. A., Zacks J., Cohen J. J., Garella S. Hereditary nephritis. Clinical spectrum and mode of inheritance in five new kindreds. Am J Med. 1971 Jun;50(6):764–771. doi: 10.1016/0002-9343(71)90184-7. [DOI] [PubMed] [Google Scholar]
  4. Crawfurd M. D., Toghill P. J. Alport's syndrome of hereditary nephritis and deafness. Q J Med. 1968 Oct;37(148):563–576. [PubMed] [Google Scholar]
  5. Demenais F. M., Elston R. C. A general transmission probability model for pedigree data. Hum Hered. 1981;31(2):93–99. doi: 10.1159/000153185. [DOI] [PubMed] [Google Scholar]
  6. Evans S. H., Erickson R. P., Kelsch R., Peirce J. C. Apparently changing patterns of inheritance in Alport's hereditary nephritis: genetic heterogeneity versus altered diagnostic criteria. Clin Genet. 1980 Apr;17(4):285–292. doi: 10.1111/j.1399-0004.1980.tb00149.x. [DOI] [PubMed] [Google Scholar]
  7. GRAHAM J. B. Hereditary chronic kidney disease: an alternative to partial sex-linkage in the Utah kindred. Am J Hum Genet. 1959 Dec;11:333–338. [PMC free article] [PubMed] [Google Scholar]
  8. Gladstien K., Spence M. A. Counseling for dominant traits: a correction for the ascertainment bias due to referral for analysis. Clin Genet. 1979 Feb;15(2):171–175. doi: 10.1111/j.1399-0004.1979.tb01757.x. [DOI] [PubMed] [Google Scholar]
  9. Gubler M., Levy M., Broyer M., Naizot C., Gonzales G., Perrin D., Habib R. Alport's syndrome. A report of 58 cases and a review of the literature. Am J Med. 1981 Mar;70(3):493–505. doi: 10.1016/0002-9343(81)90571-4. [DOI] [PubMed] [Google Scholar]
  10. Habib R., Gubler M. C., Hinglais N., Noël L. H., Droz D., Levy M., Mahieu P., Foidart J. M., Perrin D., Bois E. Alport's syndrome: experience at Hôpital Necker. Kidney Int Suppl. 1982 May;11:S20–S28. [PubMed] [Google Scholar]
  11. Li C. C., Mantel N. A simple method of estimating the segregation ratio under complete ascertainment. Am J Hum Genet. 1968 Jan;20(1):61–81. [PMC free article] [PubMed] [Google Scholar]
  12. MORTON N. E. Further scoring types in sequential linkage tests, with a critical review of autosomal and partial sex linkage in man. Am J Hum Genet. 1957 Mar;9(1):55–75. [PMC free article] [PubMed] [Google Scholar]
  13. MULROW P. J., ARON A. M., GATHMAN G. E., YESNER R., LUBS H. A. HEREDITARY NEPHRITIS. REPORT OF A KINDRED. Am J Med. 1963 Dec;35:737–748. doi: 10.1016/0002-9343(63)90237-7. [DOI] [PubMed] [Google Scholar]
  14. MacNeill E., Shaw R. F. Segregation ratios in Alport's syndrome. J Med Genet. 1973 Mar;10(1):23–26. doi: 10.1136/jmg.10.1.23. [DOI] [PMC free article] [PubMed] [Google Scholar]
  15. O'Neill W. M., Jr, Atkin C. L., Bloomer H. A. Hereditary nephritis: a re-examination of its clinical and genetic features. Ann Intern Med. 1978 Feb;88(2):176–182. doi: 10.7326/0003-4819-88-2-176. [DOI] [PubMed] [Google Scholar]
  16. O'Neill W. M., Jr, Mennemeyer R. P., Bloomer H. A., Atkin C. L. Early pathologic features of hereditary nephritis: a clinicopathologic correlation. Pathol Res Pract. 1980;168(1-3):146–162. doi: 10.1016/S0344-0338(80)80214-7. [DOI] [PubMed] [Google Scholar]
  17. PERKOFF G. T., NUGENT C. A., Jr, DOLOWITZ D. A., STEPHENS F. E., CARNES W. H., TYLER F. H. A follow-up study of hereditary chronic nephritis. AMA Arch Intern Med. 1958 Nov;102(5):733–746. doi: 10.1001/archinte.1958.00260220049005. [DOI] [PubMed] [Google Scholar]
  18. PERKOFF G. T., STEPHENS F. E., DOLOWITZ D. A., TYLER F. H. A clinical study of hereditary interstitial pyelonephritis. AMA Arch Intern Med. 1951 Aug;88(2):191–200. doi: 10.1001/archinte.1951.03810080059006. [DOI] [PubMed] [Google Scholar]
  19. Patton R. B. Chronic hereditary nephritis with nerve deafness. A Nebraska kindred. Ann Otol Rhinol Laryngol. 1970 Feb;79(1):194–202. doi: 10.1177/000348947007900119. [DOI] [PubMed] [Google Scholar]
  20. Preus M., Fraser F. C. Genetics of hereditary nephropathy with deafness (Alport's disease). Clin Genet. 1971;2(6):331–337. doi: 10.1111/j.1399-0004.1971.tb00293.x. [DOI] [PubMed] [Google Scholar]
  21. Purriel P., Drets M., Pascale E., Sánchez Cestau R., Borrás A., Ferreira W. A., de Lucca A., Fernández L. Familial hereditary nephropathy (Alport's syndrome). Am J Med. 1970 Dec;49(6):753–773. doi: 10.1016/s0002-9343(70)80057-2. [DOI] [PubMed] [Google Scholar]
  22. STEPHENS F. E., PERKOFF G. T., DOLOWITZ D. A., TYLER F. H. Partially sex-linked cominant inheritance of interstitial pyelonephritis. Am J Hum Genet. 1951 Dec;3(4):303–313. [PMC free article] [PubMed] [Google Scholar]
  23. Shaw R. F., Glover R. A. Abnormal Segregation in Hereditary Renal Disease with Deafness. Am J Hum Genet. 1961 Mar;13(1 Pt 1):89–97. [PMC free article] [PubMed] [Google Scholar]
  24. Tishler P. V. Healthy female carriers of a gene for the Alport syndrome: importance for genetic counseling. Clin Genet. 1979 Oct;16(4):291–294. doi: 10.1111/j.1399-0004.1979.tb01002.x. [DOI] [PubMed] [Google Scholar]
  25. Tishler P. V., Rosner B. The genetics of the Alport syndrome. Birth Defects Orig Artic Ser. 1974;10(4):93–99. [PubMed] [Google Scholar]

Articles from American Journal of Human Genetics are provided here courtesy of American Society of Human Genetics

RESOURCES