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Apparent Dominant Inheritance of Hypophosphatasia

Apparent Dominant Inheritance of Hypophosphatasia Abstract Since the establishment of hypophosphatasia as a syndrome in 1948 by Rathbun,1 this disease has come to be recognized as a genetically determined inborn error of metabolism with its primary features being: reduced activity of serum and tissue alkaline phosphatase, abnormal mineralization of bone, and phosphoethanolaminuria.2 The genetic mechanisms of hypophosphatasia are as yet undetermined, and it is the purpose of this report to describe a family in which documented hypophosphatasia is present in the father and 2 of his sons, suggesting the possibility of dominant inheritance. Pedigree of the Present Study Figure 1 illustrates the family tree in this study so far as it can be accurately determined. The father (II-3) and 2 of his sons (III-8 and III-9) have been investigated extensively, while the mother (II-7) and the remaining sibs (III-6 and III-7) have been subjected to routine studies in an attempt to determine their genotypes. References 1. Rathbun, J. C.: Hypophosphatasia: A New Developmental Anomaly , Amer. J. Dis. Child. 75:822-831, 1948.Crossref 2. Fraser, D.: Hypophosphatasia , Amer. J. Med. 22:730-746, 1957.Crossref 3. Bethune, J. E., and Dent, C. E.: Hypophosphatasia in the Adult , Amer. J. Med. 28:615-622, 1960.Crossref 4. Cusworth, D. C.: Personal communication to the author, 1960. 5. Dent, C. E.: Personal communication to the author, 1960. 6. Dent, C. E.: Personal communication to the author, 1960. 7. Schneider, R. W., and Corcoran, A. C.: Familial Nephrogenic Osteopathy Due to Excessive Tubular Reabsorbtion of Inorganic Phosphate: A New Syndrome and a Novel Mode of Relief , J. Lab. Clin. Med. 36:985-986, 1950. 8. Dent, C. E.: Foreword , Amer. J. Med. 22: 671-675, 1957.Crossref 9. McKusick, V. A.: Mechanisms in Genetic Diseases of Man , Amer. J. Med. 22:676-686, 1957.Crossref 10. Milch, R. A.: Direct Inheritance of Alcaptonuria , Metabolism 4:513-518, 1955. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Archives of Internal Medicine American Medical Association

Apparent Dominant Inheritance of Hypophosphatasia

Archives of Internal Medicine , Volume 110 (2) – Aug 1, 1962

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Publisher
American Medical Association
Copyright
Copyright © 1962 American Medical Association. All Rights Reserved.
ISSN
0003-9926
eISSN
1538-3679
DOI
10.1001/archinte.1962.03620200051010
Publisher site
See Article on Publisher Site

Abstract

Abstract Since the establishment of hypophosphatasia as a syndrome in 1948 by Rathbun,1 this disease has come to be recognized as a genetically determined inborn error of metabolism with its primary features being: reduced activity of serum and tissue alkaline phosphatase, abnormal mineralization of bone, and phosphoethanolaminuria.2 The genetic mechanisms of hypophosphatasia are as yet undetermined, and it is the purpose of this report to describe a family in which documented hypophosphatasia is present in the father and 2 of his sons, suggesting the possibility of dominant inheritance. Pedigree of the Present Study Figure 1 illustrates the family tree in this study so far as it can be accurately determined. The father (II-3) and 2 of his sons (III-8 and III-9) have been investigated extensively, while the mother (II-7) and the remaining sibs (III-6 and III-7) have been subjected to routine studies in an attempt to determine their genotypes. References 1. Rathbun, J. C.: Hypophosphatasia: A New Developmental Anomaly , Amer. J. Dis. Child. 75:822-831, 1948.Crossref 2. Fraser, D.: Hypophosphatasia , Amer. J. Med. 22:730-746, 1957.Crossref 3. Bethune, J. E., and Dent, C. E.: Hypophosphatasia in the Adult , Amer. J. Med. 28:615-622, 1960.Crossref 4. Cusworth, D. C.: Personal communication to the author, 1960. 5. Dent, C. E.: Personal communication to the author, 1960. 6. Dent, C. E.: Personal communication to the author, 1960. 7. Schneider, R. W., and Corcoran, A. C.: Familial Nephrogenic Osteopathy Due to Excessive Tubular Reabsorbtion of Inorganic Phosphate: A New Syndrome and a Novel Mode of Relief , J. Lab. Clin. Med. 36:985-986, 1950. 8. Dent, C. E.: Foreword , Amer. J. Med. 22: 671-675, 1957.Crossref 9. McKusick, V. A.: Mechanisms in Genetic Diseases of Man , Amer. J. Med. 22:676-686, 1957.Crossref 10. Milch, R. A.: Direct Inheritance of Alcaptonuria , Metabolism 4:513-518, 1955.

Journal

Archives of Internal MedicineAmerican Medical Association

Published: Aug 1, 1962

References

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