Publications by authors named "Prameela Ramesan"
X-linked hypophosphatemia (XLH), the most common form of hereditary hypophosphatemia, is caused by disrupting variants in the PHEX gene, located on the X chromosome. XLH is inherited in an X-linked pattern with complete penetrance observed for both males and females. Patients experience lifelong symptoms resulting from chronic hypophosphatemia, including impaired bone mineralization, skeletal deformities, growth retardation, and diminished quality of life.
View Article and Find Full Text PDFContext: X-linked hypophosphatemia (XLH) is an inherited skeletal disorder that can lead to lifelong deleterious musculoskeletal and functional consequences. Although often perceived as a childhood condition, children and adults both experience the negative effects of XLH. Adolescents and young adults (AYAs) benefit from effective health care transition (HCT) preparation to support the transfer from pediatric- to adult-focused care.
View Article and Find Full Text PDFArticle Synopsis
- X-linked hypophosphatemia (XLH) is a genetic disorder caused by mutations in the PHEX gene, leading to symptoms such as rickets, bone pain, short stature, and hearing difficulties, while affecting individuals of all ages and sexes.
- A study involving 831 people tested for XLH found that 62.5% carried either pathogenic or likely pathogenic PHEX variants, while some identified other genetic causes, indicating a need for comprehensive genetic testing.
- The collaboration between Invitae and Ultragenyx not only confirmed diagnoses in many cases but also emphasized how additional clinical information could help reclassify variants from uncertain to pathogenic, aiding family testing and diagnosis.