title: Hypophosphatasia: dental aspects and mode of inheritance.
abstract: Hypophosphatasia is rare enzymopathy that normally presents within the first few years of life and often has profound effects upon the periodontium. It is a heritable disorder characterised by defective mineralisation of the skeletal and dental structures of the body and a deficiency in the liver/bone/kidney (L/B/K) isoenzyme of alkaline phosphatase (ALP). There has been a tremendous advance in our knowledge of this condition over the last decade due to the advent of highly specific DNA probes and novel microanalytical techniques. This paper aims to review current literature about hypophosphatasia with special reference to the dental aspects of the condition and to shed light upon the controversial area of its mode of genetic inheritance. It is concluded that hypophosphatasia may result from the existence of 2 defective alleles, which alone or in combination may cause the condition. One allele is expressed in an autosomal dominant manner producing milder phenotypic characteristics, whilst the other is expressed in an autosomal recessive manner producing the more severe clinical form that often results in neonatal death. The milder phenotypes may go undiagnosed and the consequence of this in genetic counselling terms is extremely important.
authors.affiliation: Department of Dentistry (Periodontology), Birmingham Dental School, St. Chads Queensway, UK.
authors.forename: I L
authors.initials: IL
authors.lastname: Chapple
mesh_terms: D000469:Alkaline Phosphatase / Q000235:genetics / Q000378:metabolism; D003739:Dental Cementum / Q000002:abnormalities; D006801:Humans; D007014:Hypophosphatasia / Q000150:complications* / Q000201:enzymology / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D010510:Periodontal Diseases / Q000209:etiology*
chemical_list: D000469:Alkaline Phosphatase