title: Severe hypophosphatasia due to mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene.
abstract: Hypophosphatasia is a rare autosomal recessive inborn error of metabolism characterized by a defective bone mineralisation and deficiency of serum and tissue liver/bone/kidney alkaline phosphatase activity. We report the characterisation of tissue-nonspecific alkaline phosphatase (TNSALP) gene mutation in a patient affected by infantile hypophosphatasia. This boy was the first child of non affected, non related parents. At 1 month of age he presented with palsy of the left upper limb with hypotonia. Length was - 2SD. The anterior fontanel was large. There was a markedly decreased ossification of all bones. All limbs were shortened. Ultrasonographic examination of the kidneys showed nephrocalcinosis. Level of alkaline phosphatases was decreased in the child as well as in the parents. Bone density was decreased. At 2 years of age development was delayed. Weight was - 3,5 SD and OFC - 3SD. The child had craniosynostosis. Molecular studies showed 2 missense mutations, both in exon 6 of the TNSALP gene.
authors.affiliation: Service de Génétique Médicale, Centre Hospitalo-Universitaire, Strasbourg, France. Claude.Stoll@chru-strasbourg.fr
authors.forename: C
authors.initials: C
authors.lastname: Stoll
authors.forename: M
authors.initials: M
authors.lastname: Fischbach
authors.forename: J
authors.initials: J
authors.lastname: Terzic
authors.forename: Y
authors.initials: Y
authors.lastname: Alembik
authors.forename: M O
authors.initials: MO
authors.lastname: Vuillemin
authors.forename: E
authors.initials: E
authors.lastname: Mornet
mesh_terms: D000469:Alkaline Phosphatase / Q000097:blood / Q000235:genetics*; D002869:Chromosome Aberrations; D003398:Craniosynostoses / Q000000981:diagnostic imaging; D006225:Hand / Q000000981:diagnostic imaging; D006801:Humans; D007014:Hypophosphatasia / Q000150:complications / Q000201:enzymology / Q000235:genetics* / Q000503:physiopathology; D007223:Infant; D008297:Male; D010009:Osteochondrodysplasias / Q000000981:diagnostic imaging; D011859:Radiography; D012279:Rickets / Q000209:etiology / Q000503:physiopathology
chemical_list: D000469:Alkaline Phosphatase