Somatic and Germline Mosaicism for a Mutation of the PHEX Gene Can Lead to Genetic Transmission of X-Linked Hypophosphatemic Rickets That Mimics an Autosomal Dominant Trait

Abstract excerpt

CONTEXT: Familial hypophosphatemic rickets is usually transmitted as an X-linked dominant disorder (XLH), although autosomal dominant forms have also been observed. Genetic studies of these disorders have identified mutations in PHEX and FGF23 as the causes of X-linked dominant disorder and autosomal dominant forms, respectively. OBJECTIVE: The objective of the study was to describe the molecular genetic findings...

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