[A novel mutation in infant hypophophatasia: a case report].
BACKGROUND
Hypophosphatasia is a rare inherited disorder characterized by defective bone and teeth mineralization and deficiency of serum and bone alkaline phosphatase activity. Several mutations in the TNSALP gene are identified.


OBJECTIVE
The authors describe a Tunisian case having a mutation that has not been described up to now.


METHODS
It is about an infant, in the antecedents of recurring disease of the lungs in child since the age of seven months, which presents clinical and radiological signs of rickets. The diagnosis of hypophosphatasia is strongly suspected in front of Reduced serum alkaline phosphatase activity and confirmed by the genetic study. The child is homozygous for a new mutation L282P in the ninth exon of the gene. The parents and two brother and sister are heterozygous for the same mutation.
Halioui-Louhaïchi
Sonia
S
Service de Pédiatrie et de Néonatologie, l'Hôpital Mongi Slim, La Marsa, Tunisie.
Ben M'barek
Samia
S
Ben Hariz
Mongi
M
Ben Farhat
Leila
L
Briki
Sarra
S
Hendaoui
Lotfi
L
Mornet
Etienne
E
Maherzi
Ahmed
A
D000469:Alkaline Phosphatase / Q000235:genetics; D005091:Exons / Q000235:genetics; D005500:Follow-Up Studies; D006720:Homozygote; D006801:Humans; D007014:Hypophosphatasia / Q000235:genetics*; D007223:Infant; D007930:Leucine / Q000235:genetics; D008297:Male; D009154:Mutation / Q000235:genetics*; D011392:Proline / Q000235:genetics
D011392:Proline; D000469:Alkaline Phosphatase; D007930:Leucine