Article

Case Report

Clinical Orthopaedics and Related Research (impact factor: 2.53). 04/2012; 466(4):990-996. DOI:10.1007/s11999-008-0123-9 pp.990-996

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.

0 0
 · 
0 Bookmarks
 · 
39 Views
Data provided are for informational purposes only. Although carefully collected, accuracy cannot be guaranteed. The impact factor represents a rough estimation of the journal's impact factor and does not reflect the actual current impact factor. Publisher conditions are provided by RoMEO. Differing provisions from the publisher's actual policy or licence agreement may be applicable.

Keywords

cranial sutures
 
defective skeletal mineralization
 
encoding tissue-nonspecific alkaline phosphatase
 
genetic cause
 
rare
 
rare inheritable disease
 
Saethre-Chotzen syndrome
 
TNSALP
 
TNSALP gene
 
two disorders