title: Case report: multiple fractures in a patient with mutations of TWIST1 and TNSALP.
abstract: Hypophosphatasia is a rare inherited disorder characterized by defective skeletal mineralization and low alkaline phosphatase activities in the serum. The genetic cause of hypophosphatasia is believed related to inactivating mutations in the TNSALP gene, encoding tissue-nonspecific alkaline phosphatase. Another rare inheritable disease, Saethre-Chotzen syndrome, leads to premature fusion of the cranial sutures caused by heterozygous mutations of the human TWIST1 gene. Because the two disorders apparently are not genetically related (only reported individually) yet both involve defective skeletal formation, we believe it is important to report our findings on a patient harboring mutations of TNSALP and TWIST1.
authors.affiliation: Department of Trauma, Hand, and Reconstructive Surgery and the Department of Experimental Trauma Surgery and Skeletal Biology, Center for Biomechanics, University Medical Center Hamburg-Eppendorf, Martinistrasse 52, 20246, Hamburg, Germany.
authors.forename: Florian
authors.initials: F
authors.lastname: Barvencik
authors.forename: Matthias
authors.initials: M
authors.lastname: Gebauer
authors.forename: Thorsten
authors.initials: T
authors.lastname: Schinke
authors.forename: Michael
authors.initials: M
authors.lastname: Amling
mesh_terms: D000168:Acrocephalosyndactylia / Q000150:complications* / Q000201:enzymology / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D000328:Adult; D000469:Alkaline Phosphatase / Q000097:blood / Q000235:genetics*; D002113:Calcification, Physiologic / Q000235:genetics; D003398:Craniosynostoses / Q000235:genetics; D004252:DNA Mutational Analysis; D050723:Fractures, Bone / Q000201:enzymology / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D005838:Genotype; D006801:Humans; D007014:Hypophosphatasia / Q000150:complications* / Q000201:enzymology / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D008297:Male; D009104:Multiple Trauma / Q000201:enzymology / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D009154:Mutation; D009687:Nuclear Proteins / Q000235:genetics*; D010641:Phenotype; D051879:Twist-Related Protein 1 / Q000235:genetics*
chemical_list: D009687:Nuclear Proteins; C103173:TWIST1 protein, human; D051879:Twist-Related Protein 1; D000469:Alkaline Phosphatase