[Genetics of hypophosphatasia].
Hypophosphatasia is a rare inherited disorder characterized by defective bone and teeth mineralization and deficiency of serum and bone alkaline phosphatase activity. The symptoms are highly variable in their clinical expression, which ranges from stillbirth without mineralized bone to early loss of teeth without bone symptoms. Currently, there is no treatment for the disease. Recent developments in molecular biology allow to better understand the genetics of the disease, especially its transmission that may be recessive or dominant, to improve genetic counseling and molecular diagnosis, and offer new perspectives of treatment.
Mornet
E
E
Centre d'études de biologie prénatale, laboratoire SESEP, université de Versailles-Saint-Quentin en Yvelines, bâtiment Fermat, 45, avenue des Etats-Unis, 78035 Versailles, France. etienne.mornet@cytogene.uvsq.fr
Simon-Bouy
B
B
D005817:Genetic Counseling; D005820:Genetic Testing; D006801:Humans; D007014:Hypophosphatasia / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology*; D007231:Infant, Newborn; D011379:Prognosis