One example of an x-linked dominant issue is Leri-Weill Dyschondrosteosis (LWD). LWD is a dominantly inherited skeletal dysplasia characterized by short stature, mesomelia, and Madelung wrist deformity. This is a rare genetic disorder caused by a mutation of the SHOX gene. The shortened stature is caused by the homeobox containing gene.
Hypophosphatemic Rickets is a vitamin D resistant rickets. X-linked hypophosphatemic rickets with inability of the renal tubules to absorb phosphates (phosphates levels are down linked to the PHEX gene - Phosphate Regulating Endopeptidase Homolog, X-linked). This is the most common cause of rickets within the United States of America. Dr. Nabil Ebraheim suggests that the doctor will look for a child short in stature, bowing of the lower limbs, and low serum phosphate levels. The Alkaline phosphatase (ALP) levels will also be high. Calcium levels in these patients will be normal, as well as the Parathyroid hormone (PTH). The treatment for this is usually high doses of phosphate replacement and high doses of vitamin D to facilitate the phosphate absorption.
In x-linked dominance, the affected individual has an affected parent due to the dominant gene. All affected males must have an affected mother. All affected fathers will have affected daughters and no affected sons. Dr. Nabil Ebraheim suggests looking to the males. Looking and the sons and fathers will be your clues.
Dr. Nabil Ebraheim's YouTube Channel
Dr. Ebraheim's Huffington Post
