7 Inherited forms of rickets and osteomalacia

The molecular genetics of the multiple endocrine neoplasia syndromes

“…LOD scores are usually evaluated over a range of recombination fractions (0), thereby enabling the genetic distance and the maximum (or peak) probability favouring linkage between two loci to be ascertained. A fuller description has been given of linkage in families with inherited metabolic and endocrine disorders (Thakker & O'Riordan, 1988;Thakker et a/., 1990b).…”

Three Novel PHEX Gene Mutations in Japanese Patients with X-Linked Hypophosphatemic Rickets

“…Abbreviations XLH, X-linked hypophosphatemic rickets PHEX, phosphate-regulating gene with homologies to endopeptidases on X-chromosome Hypophosphatemic rickets is the most common nonnutritional rickets. The usual mode of inheritance is an Xlinked dominant, although some forms are transmitted as an autosomal dominant fashion (1)(2)(3)(4)(5). This disorder is characterized by a defect in renal phosphate transport, causing phosphate wasting, hypophosphatemia, aberrant vitamin D metabolism, and defective bone mineralization (1)(2)(3)(4)(5).…”

Mapping the gene causing X-linked recessive nephrolithiasis to Xp11.22 by linkage studies.

“…The penetrance of the mutant XRN gene has not been established. However, in keeping with Xlinked recessive disorders (3,4,5,7,28) the disease phenotype could be established in early childhood in males but not females, who undergo X-chromosome inactivation (4,5,28). Thus, males could be allocated affected and unaffected phenotypes but females were all allocated an unaffected phenotype.…”

“…However, a comparison of the clinical features of X-linked recessive nephrolithiasis (XRN) I to those of other X-linked renal disorders revealed important differences ( 1 ). For example, patients with XRN did not suffer from the ocular and cerebral manifestations associated with the Lowe syndrome (3), which is the only other reported X-linked Fanconi syndrome (4,5). In addition, patients with XRN did not suffer from deafness and the glomerular basement membrane splitting characteristic of Alport's syndrome (6), which is also an X-linked disorder (7) associated with renal failure.…”