Bone mineralization-dependent @entity91 and @entity2122 in the XXXX model of infantile hypophosphatasia.

@entity1 @entity2122 @entity10749 @entity19 @entity79 @entity854 @entity91 @entity4370
BACKGROUND: Inactivating mutations in @entity10749 ( @entity10749 ) cause @entity4370 ( @entity4370 ), which is commonly characterized by decreased bone mineralization. @entity1 and @entity19 with @entity4370 can also develop @entity91 and @entity2122 , although the mechanism by which @entity10749 deficiency causes these @entity2122 is not yet known. Manifestations of @entity4370 are heterogeneous in severity, and evidence from the literature suggests that much of this variability is mutation dependent. Here, we performed a comprehensive analysis of @entity91 and @entity2122 in the @entity10749 (-/-) @entity19 model of @entity19 @entity4370 as an initial step toward better understanding penetrance of the @entity4370 craniofacial phenotype. RESULTS: Despite similar deficiencies in alkaline phosphatase, @entity10749 (-/-) @entity19 develop @entity91 and a brachycephalic/acrocephalic craniofacial shape of variable penetrance. Only those @entity10749 (-/-) @entity19 with a severe @entity79 defect develop @entity91 and an abnormal craniofacial shape. CONCLUSIONS: These results indicate that variability of the @entity4370 phenotype is not entirely dependent upon the type of genetic mutation and level of residual alkaline phosphatase activity. Additionally, despite a severity continuum of the @entity79 phenotype, craniofacial skeletal @entity854 and @entity91 occur only in the context of severely diminished bone mineralization in the @entity10749 (-/-) @entity19 model of @entity4370 . Developmental Dynamics 245:175-182, 2016.    2015 Wiley Periodicals, Inc.
