OBJECTIVES: @entity4370 is an @entity74 characterized by defective bone mineralization and deficiency of @entity28470 ( @entity28470 ) activity. This disorder is caused by various mutations in the @entity28470 gene. We report here @entity4370 in two siblings, both of them severely affected by the perinatal (lethal) type. METHODS: We diagnosed the first @entity1 by clinical and radiologic manifestations, and laboratory findings. Laboratory findings were characterized by deficiency of serum alkaline phosphatase. Both parents and the second @entity1 were then analyzed by molecular techniques. RESULTS: The radiograph of the first @entity1 showed severe @entity3760 of the skeleton. Molecular analysis of the second @entity1 showed that this condition was caused by a homozygous single T @entity377 deletion at cDNA number 1559 ( @entity46859 ). Both parents were heterozygous carriers for this mutation, although they were not consanguineous. CONCLUSION: This mutation has been frequently found in Japanese @entity4370 @entity1 , but this is the first observation of a homozygous deletion. This report shows that homozygosity for the @entity46859 mutation of the @entity28470 gene results in a severe lethal phenotype.

Severe perinatal XXXX due to homozygous deletion of T at nucleotide 1559 in the @entity28470 gene.

@entity1 :: ('9606', 'Species') :: ['patients', 'infant'] @entity28470 :: ('249', 'Gene') :: ['TNSALP', 'tissue nonspecific alkaline phosphatase'] @entity46859 :: ('c|DEL|1559|T', 'DNAMutation') :: ['1559delT'] @entity377 :: ('CHEBI:36976', 'Chemical') :: ['nucleotide'] @entity3760 :: ('MESH:D017001', 'Disease') :: ['hypomineralization'] @entity74 :: ('MESH:D030342', 'Disease') :: ['inherited disorder'] @entity4370 :: ('MESH:D007014', 'Disease') :: ['Hypophosphatasia', 'hypophosphatasia']
@entity4370 :: (MESH:D007014,Disease) :: ['hypophosphatasia']
